{"id":"https://openalex.org/W4281699281","doi":"https://doi.org/10.1093/neuonc/noac079.431","title":"MEDB-57.GNAS inactivation as a driver for sonic hedgehog-activated medulloblastoma","display_name":"MEDB-57.GNAS inactivation as a driver for sonic hedgehog-activated medulloblastoma","publication_year":2022,"publication_date":"2022-06-01","ids":{"openalex":"https://openalex.org/W4281699281","doi":"https://doi.org/10.1093/neuonc/noac079.431"},"language":"en","primary_location":{"id":"doi:10.1093/neuonc/noac079.431","doi":"https://doi.org/10.1093/neuonc/noac079.431","is_oa":true,"landing_page_url":"https://doi.org/10.1093/neuonc/noac079.431","pdf_url":"https://academic.oup.com/neuro-oncology/article-pdf/24/Supplement_1/i119/43945632/noac079.431.pdf","source":{"id":"https://openalex.org/S106908163","display_name":"Neuro-Oncology","issn_l":"1522-8517","issn":["1522-8517","1523-5866"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuro-Oncology","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/neuro-oncology/article-pdf/24/Supplement_1/i119/43945632/noac079.431.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5020520293","display_name":"Erin Goode","orcid":"https://orcid.org/0000-0002-5690-5269","observed_orcids":["https://orcid.org/0000-0002-5690-5269"]},"institutions":[{"id":"https://openalex.org/I4210124153","display_name":"Phoenix Children's Hospital","ror":"https://ror.org/03ae6qy41","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210124153"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Erin Goode","raw_affiliation_strings":["Phoenix Children's Hospital , Phoenix, AZ , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Phoenix Children's Hospital , Phoenix, AZ , USA","institution_ids":["https://openalex.org/I4210124153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090577884","display_name":"Liliana Montoya","orcid":"https://orcid.org/0000-0003-1145-7260","observed_orcids":["https://orcid.org/0000-0003-1145-7260"]},"institutions":[{"id":"https://openalex.org/I4210124153","display_name":"Phoenix Children's Hospital","ror":"https://ror.org/03ae6qy41","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210124153"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Liliana Montoya","raw_affiliation_strings":["Phoenix Children's Hospital , Phoenix, AZ , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Phoenix Children's Hospital , Phoenix, AZ , USA","institution_ids":["https://openalex.org/I4210124153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073651637","display_name":"Eric Graham","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210124153","display_name":"Phoenix Children's Hospital","ror":"https://ror.org/03ae6qy41","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210124153"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eric Graham","raw_affiliation_strings":["Phoenix Children's Hospital , Phoenix, AZ , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Phoenix Children's Hospital , Phoenix, AZ , USA","institution_ids":["https://openalex.org/I4210124153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081134265","display_name":"Brianna Pruniski","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210124153","display_name":"Phoenix Children's Hospital","ror":"https://ror.org/03ae6qy41","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210124153"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brianna Pruniski","raw_affiliation_strings":["Phoenix Children's Hospital , Phoenix, AZ , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Phoenix Children's Hospital , Phoenix, AZ , USA","institution_ids":["https://openalex.org/I4210124153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063057718","display_name":"Curtis L. Simmons","orcid":"https://orcid.org/0000-0002-6837-3108","observed_orcids":["https://orcid.org/0000-0002-6837-3108"]},"institutions":[{"id":"https://openalex.org/I4210124153","display_name":"Phoenix Children's Hospital","ror":"https://ror.org/03ae6qy41","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210124153"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Curtis Simmons","raw_affiliation_strings":["Phoenix Children's Hospital , Phoenix, AZ , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Phoenix Children's Hospital , Phoenix, AZ , USA","institution_ids":["https://openalex.org/I4210124153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077867251","display_name":"Alexander I. Ngwube","orcid":"https://orcid.org/0000-0003-4780-5642","observed_orcids":["https://orcid.org/0000-0003-4780-5642"]},"institutions":[{"id":"https://openalex.org/I4210124153","display_name":"Phoenix Children's Hospital","ror":"https://ror.org/03ae6qy41","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210124153"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alexander Ngwube","raw_affiliation_strings":["Phoenix Children's Hospital , Phoenix, AZ , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Phoenix Children's Hospital , Phoenix, AZ , USA","institution_ids":["https://openalex.org/I4210124153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084587717","display_name":"Lindsey Marie Hoffman","orcid":"https://orcid.org/0000-0002-7334-6534","observed_orcids":["https://orcid.org/0000-0002-7334-6534"]},"institutions":[{"id":"https://openalex.org/I4210124153","display_name":"Phoenix Children's Hospital","ror":"https://ror.org/03ae6qy41","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210124153"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lindsey M Hoffman","raw_affiliation_strings":["Phoenix Children's Hospital , Phoenix, AZ , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Phoenix Children's Hospital , Phoenix, AZ , USA","institution_ids":["https://openalex.org/I4210124153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048681063","display_name":"Nishant R. Tiwari","orcid":"https://orcid.org/0000-0001-6309-5092","observed_orcids":["https://orcid.org/0000-0001-6309-5092"]},"institutions":[{"id":"https://openalex.org/I4210124153","display_name":"Phoenix Children's Hospital","ror":"https://ror.org/03ae6qy41","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210124153"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nishant Tiwari","raw_affiliation_strings":["Phoenix Children's Hospital , Phoenix, AZ , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Phoenix Children's Hospital , Phoenix, AZ , USA","institution_ids":["https://openalex.org/I4210124153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063290790","display_name":"Kenneth Aldape","orcid":"https://orcid.org/0000-0001-5119-7550","observed_orcids":["https://orcid.org/0000-0001-5119-7550"]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kenneth Aldape","raw_affiliation_strings":["National Cancer Institute , Bethesda, Maryland , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Cancer Institute , Bethesda, Maryland , USA","institution_ids":["https://openalex.org/I4210140884"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003910331","display_name":"Harper N. Price","orcid":"https://orcid.org/0000-0002-8473-2369","observed_orcids":["https://orcid.org/0000-0002-8473-2369"]},"institutions":[{"id":"https://openalex.org/I4210124153","display_name":"Phoenix Children's Hospital","ror":"https://ror.org/03ae6qy41","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210124153"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Harper N Price","raw_affiliation_strings":["Phoenix Children's Hospital , Phoenix, AZ , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Phoenix Children's Hospital , Phoenix, AZ , USA","institution_ids":["https://openalex.org/I4210124153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040922566","display_name":"Vera Paulson","orcid":"https://orcid.org/0000-0003-4157-2534","observed_orcids":["https://orcid.org/0000-0003-4157-2534"]},"institutions":[{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Vera Paulson","raw_affiliation_strings":["University of Washington , Seattle, WA , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Washington , Seattle, WA , USA","institution_ids":["https://openalex.org/I201448701"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5063568418","display_name":"Ross Mangum","orcid":"https://orcid.org/0000-0002-2288-042X","observed_orcids":["https://orcid.org/0000-0002-2288-042X"]},"institutions":[{"id":"https://openalex.org/I4210124153","display_name":"Phoenix Children's Hospital","ror":"https://ror.org/03ae6qy41","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210124153"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ross Mangum","raw_affiliation_strings":["Phoenix Children's Hospital , Phoenix, AZ , USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Phoenix Children's Hospital , Phoenix, AZ , USA","institution_ids":["https://openalex.org/I4210124153"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4612,"currency":"USD","value_usd":4612},"apc_paid":{"value":4612,"currency":"USD","value_usd":4612},"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"24","issue":"Supplement_1","first_page":"i119","last_page":"i119"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12009","display_name":"Hedgehog Signaling Pathway Studies","score":0.6021000146865845,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12009","display_name":"Hedgehog Signaling Pathway Studies","score":0.6021000146865845,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10129","display_name":"Glioma Diagnosis and Treatment","score":0.37059998512268066,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12820","display_name":"Chromatin Remodeling and Cancer","score":0.002099999925121665,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/sonic-hedgehog-pathway","display_name":"sonic hedgehog pathway","score":0.8149999976158142},{"id":"https://openalex.org/keywords/shh-medulloblastoma","display_name":"SHH medulloblastoma","score":0.8629999756813049},{"id":"https://openalex.org/keywords/osteoma-cutis","display_name":"osteoma cutis","score":0.8299999833106995},{"id":"https://openalex.org/keywords/pediatric-brain-tumors","display_name":"pediatric brain tumors","score":0.6370000243186951},{"id":"https://openalex.org/keywords/desmoplastic-medulloblastoma","display_name":"desmoplastic medulloblastoma","score":0.7749999761581421},{"id":"https://openalex.org/keywords/pseudopseudohypoparathyroidism","display_name":"pseudopseudohypoparathyroidism","score":0.8610000014305115},{"id":"https://openalex.org/keywords/methylation-profiling","display_name":"methylation profiling","score":0.5350000262260437}],"concepts":[{"id":"https://openalex.org/C74231797","wikidata":"https://www.wikidata.org/wiki/Q14905160","display_name":"GNAS complex locus","level":3,"score":0.975312352180481},{"id":"https://openalex.org/C2780789225","wikidata":"https://www.wikidata.org/wiki/Q1333608","display_name":"Medulloblastoma","level":2,"score":0.8594468832015991},{"id":"https://openalex.org/C2776637008","wikidata":"https://www.wikidata.org/wiki/Q14860072","display_name":"Sonic hedgehog","level":3,"score":0.7213296890258789},{"id":"https://openalex.org/C2779477247","wikidata":"https://www.wikidata.org/wiki/Q18030895","display_name":"PTCH1","level":4,"score":0.5778297185897827},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.508929967880249},{"id":"https://openalex.org/C2779933373","wikidata":"https://www.wikidata.org/wiki/Q14886430","display_name":"GLI1","level":4,"score":0.4923032522201538},{"id":"https://openalex.org/C2780265364","wikidata":"https://www.wikidata.org/wiki/Q5009957","display_name":"CDKN2A","level":3,"score":0.4737206995487213},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.4188781976699829},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4161016047000885},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3972058892250061},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3461077809333801},{"id":"https://openalex.org/C2778539099","wikidata":"https://www.wikidata.org/wiki/Q6120","display_name":"Hedgehog","level":3,"score":0.2828925848007202},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2698765993118286},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.14594489336013794},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C62478195","wikidata":"https://www.wikidata.org/wiki/Q828130","display_name":"Signal transduction","level":2,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1093/neuonc/noac079.431","doi":"https://doi.org/10.1093/neuonc/noac079.431","is_oa":true,"landing_page_url":"https://doi.org/10.1093/neuonc/noac079.431","pdf_url":"https://academic.oup.com/neuro-oncology/article-pdf/24/Supplement_1/i119/43945632/noac079.431.pdf","source":{"id":"https://openalex.org/S106908163","display_name":"Neuro-Oncology","issn_l":"1522-8517","issn":["1522-8517","1523-5866"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuro-Oncology","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9165066","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9165066","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuro Oncol","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/neuonc/noac079.431","doi":"https://doi.org/10.1093/neuonc/noac079.431","is_oa":true,"landing_page_url":"https://doi.org/10.1093/neuonc/noac079.431","pdf_url":"https://academic.oup.com/neuro-oncology/article-pdf/24/Supplement_1/i119/43945632/noac079.431.pdf","source":{"id":"https://openalex.org/S106908163","display_name":"Neuro-Oncology","issn_l":"1522-8517","issn":["1522-8517","1523-5866"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuro-Oncology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4281699281.pdf","grobid_xml":"https://content.openalex.org/works/W4281699281.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2900438597","https://openalex.org/W2994272702","https://openalex.org/W4393194044","https://openalex.org/W2162393466","https://openalex.org/W4244192520","https://openalex.org/W2138351218","https://openalex.org/W2620207532","https://openalex.org/W3022493072","https://openalex.org/W4220757531","https://openalex.org/W2767209052"],"abstract_inverted_index":{"Abstract":[0],"INTRODUCTION:":[1],"Sonic":[2],"hedgehog":[3],"(SHH)-activated":[4],"medulloblastoma":[5,15,129,260,282],"is":[6,17,261],"one":[7],"of":[8,14,46,101,104,145,208,229,245,257,277,289],"the":[9,44,91,152,163,246,255,287],"four":[10],"consensus":[11],"molecular":[12,77,221],"subgroups":[13],"and":[16,61,155,165,185,240,254,266],"typically":[18],"associated":[19],"with":[20,52,73,128,135,169,176],"PTCH1,":[21],"SUFU,":[22],"and/or":[23],"SMO":[24],"mutations.":[25],"GNAS":[26,92,106,120,202,212,232,251,278],"inactivating":[27,231,252],"mutations":[28,203,233,253],"are":[29,214],"a":[30,53,65,80,86,97,114,140],"less":[31],"commonly":[32],"recognized":[33],"tumorigenic":[34,206],"driver":[35],"for":[36,224,263,275],"SHH":[37,131,209],"pathway":[38],"activation.":[39],"CASE":[40],"PRESENTATION:":[41],"We":[42],"report":[43],"case":[45,197],"an":[47],"11-month-old":[48],"male":[49],"who":[50],"presented":[51],"large":[54],"posterior":[55],"fossa":[56],"mass,":[57],"cerebellar":[58],"tonsillar":[59],"herniation,":[60],"obstructive":[62],"hydrocephalus.":[63],"Following":[64],"successful":[66],"gross":[67],"total":[68],"resection,":[69],"pathology":[70],"was":[71,111,126,143,174],"consistent":[72,127,168],"desmoplastic/nodular":[74],"medulloblastoma.":[75,210,225],"Tumor":[76],"profiling":[78,125],"using":[79],"DNA-based,":[81],"next-generation":[82],"sequencing":[83,222,283],"platform":[84],"detected":[85,112],"pathogenic":[87],"frameshift":[88],"mutation":[89,110],"in":[90,280,286],"gene":[93],"(p.D189Mfs*14,":[94],"NM_000516.4:c.565_568del)":[95],"at":[96],"variant":[98],"allele":[99],"frequency":[100],"81%,":[102],"suggestive":[103],"biallelic":[105],"inactivation.":[107,121],"The":[108],"same":[109],"from":[113,190],"buccal":[115],"swab":[116],"sample,":[117],"confirming":[118],"germline":[119,200,230,250],"Whole":[122],"genome":[123],"methylation":[124],"subclass":[130],"B":[132],"(infant).":[133],"Concurrent":[134],"this":[136],"brain":[137],"tumor":[138],"evaluation,":[139],"skin":[141],"biopsy":[142],"performed":[144],"scattered":[146,196],"subcutaneous,":[147],"plate-like":[148,170],"nodules":[149],"distributed":[150],"over":[151],"patient\u2019s":[153],"back":[154],"extremities.":[156],"This":[157],"revealed":[158],"metaplastic-appearing":[159],"cancellous":[160],"bone":[161],"within":[162],"dermis":[164],"subcutaneous":[166],"tissue":[167],"osteoma":[171,241,290],"cutis.":[172,242],"He":[173],"treated":[175],"high-dose":[177],"chemotherapy":[178],"followed":[179],"by":[180,217],"autologous":[181],"stem":[182],"cell":[183],"rescue":[184],"remains":[186],"disease-free":[187],"15":[188],"months":[189],"diagnosis.":[191],"DISCUSSION:":[192],"There":[193],"have":[194],"been":[195],"reports":[198],"describing":[199],"loss-of-function":[201],"acting":[204],"as":[205],"drivers":[207],"However,":[211],"alterations":[213,279],"not":[215],"covered":[216],"most":[218],"standard":[219],"diagnostic":[220,281],"panels":[223],"Other":[226],"phenotypic":[227],"manifestations":[228],"include":[234],"pseudohypoparathyroidism,":[235],"pseudopseudohypoparathyroidism,":[236],"progressive":[237],"osseous":[238],"heteroplasia,":[239],"CONCLUSION:":[243],"Knowledge":[244],"possible":[247],"association":[248],"between":[249],"development":[256],"childhood":[258],"SHH-activated":[259],"essential":[262],"prompt":[264],"diagnosis":[265],"treatment":[267],"initiation.":[268],"As":[269],"such,":[270],"consideration":[271],"should":[272],"be":[273],"given":[274],"inclusion":[276],"panels,":[284],"especially":[285],"setting":[288],"cutis":[291],"or":[292],"other":[293],"endocrinopathies.":[294]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2022-06-13T00:00:00"}
