{"id":"https://openalex.org/W2914664166","doi":"https://doi.org/10.1186/s12881-019-0747-5","title":"Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report","display_name":"Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report","publication_year":2019,"publication_date":"2019-01-11","ids":{"openalex":"https://openalex.org/W2914664166","doi":"https://doi.org/10.1186/s12881-019-0747-5","mag":"2914664166","pmid":"https://pubmed.ncbi.nlm.nih.gov/30635043","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6330443"},"language":"en","primary_location":{"id":"doi:10.1186/s12881-019-0747-5","doi":"https://doi.org/10.1186/s12881-019-0747-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12881-019-0747-5","pdf_url":"https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/s12881-019-0747-5","source":{"id":"https://openalex.org/S143585532","display_name":"BMC Medical Genetics","issn_l":"1471-2350","issn":["1471-2350"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","jufo-1","ki-jl-1","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/s12881-019-0747-5","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5028221527","display_name":"Mohammad Manna Al-Qattan","orcid":"https://orcid.org/0000-0003-2936-7044","observed_orcids":["https://orcid.org/0000-0003-2936-7044"]},"institutions":[{"id":"https://openalex.org/I2800965796","display_name":"King Faisal Specialist Hospital & Research Centre","ror":"https://ror.org/05n0wgt02","country_code":"SA","type":"healthcare","lineage":["https://openalex.org/I2800965796"]},{"id":"https://openalex.org/I28022161","display_name":"King Saud University","ror":"https://ror.org/02f81g417","country_code":"SA","type":"education","lineage":["https://openalex.org/I28022161"]},{"id":"https://openalex.org/I2802517405","display_name":"King Abdulaziz Medical City","ror":"https://ror.org/009djsq06","country_code":"SA","type":"healthcare","lineage":["https://openalex.org/I2802517405"]},{"id":"https://openalex.org/I4517696","display_name":"National Guard Health Affairs","ror":"https://ror.org/02pecpe58","country_code":"SA","type":"healthcare","lineage":["https://openalex.org/I4517696"]}],"countries":["SA"],"is_corresponding":true,"raw_author_name":"Mohammad M. Al-Qattan","raw_affiliation_strings":["Division of Plastic Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, PO Box 18097, Riyadh, 11415, Saudi Arabia. moqattan@hotmail.com","Division of Plastic Surgery, King Faisal Specialist Hospital and Research Center, PO Box 18097, Riyadh, 11415, Saudi Arabia. moqattan@hotmail.com","Division of Plastic Surgery, King Saud University, PO Box 18097, Riyadh, 11415, Saudi Arabia. moqattan@hotmail.com","Division of Plastic Surgery, King Saud University, PO Box 18097, Riyadh, 11415, Saudi Arabia"],"raw_orcid":"https://orcid.org/0000-0003-2936-7044","affiliations":[{"raw_affiliation_string":"Division of Plastic Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, PO Box 18097, Riyadh, 11415, Saudi Arabia. moqattan@hotmail.com","institution_ids":["https://openalex.org/I2802517405","https://openalex.org/I4517696"]},{"raw_affiliation_string":"Division of Plastic Surgery, King Faisal Specialist Hospital and Research Center, PO Box 18097, Riyadh, 11415, Saudi Arabia. moqattan@hotmail.com","institution_ids":["https://openalex.org/I2800965796"]},{"raw_affiliation_string":"Division of Plastic Surgery, King Saud University, PO Box 18097, Riyadh, 11415, Saudi Arabia. moqattan@hotmail.com","institution_ids":["https://openalex.org/I28022161"]},{"raw_affiliation_string":"Division of Plastic Surgery, King Saud University, PO Box 18097, Riyadh, 11415, Saudi Arabia","institution_ids":["https://openalex.org/I28022161"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084621531","display_name":"Abdulaziz T. Jarman","orcid":"https://orcid.org/0000-0002-8717-1042","observed_orcids":["https://orcid.org/0000-0002-8717-1042"]},"institutions":[{"id":"https://openalex.org/I2800965796","display_name":"King Faisal Specialist Hospital & Research Centre","ror":"https://ror.org/05n0wgt02","country_code":"SA","type":"healthcare","lineage":["https://openalex.org/I2800965796"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Abdulaziz Jarman","raw_affiliation_strings":["Division of Plastic Surgery, King Faisal Specialist Hospital and Research Center, PO Box 18097, Riyadh, 11415, Saudi Arabia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Plastic Surgery, King Faisal Specialist Hospital and Research Center, PO Box 18097, Riyadh, 11415, Saudi Arabia","institution_ids":["https://openalex.org/I2800965796"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087718044","display_name":"Atif Rafique","orcid":"https://orcid.org/0000-0001-8326-5626","observed_orcids":["https://orcid.org/0000-0001-8326-5626"]},"institutions":[{"id":"https://openalex.org/I2800965796","display_name":"King Faisal Specialist Hospital & Research Centre","ror":"https://ror.org/05n0wgt02","country_code":"SA","type":"healthcare","lineage":["https://openalex.org/I2800965796"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Atif Rafique","raw_affiliation_strings":["Division of Plastic Surgery, King Faisal Specialist Hospital and Research Center, PO Box 18097, Riyadh, 11415, Saudi Arabia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Plastic Surgery, King Faisal Specialist Hospital and Research Center, PO Box 18097, Riyadh, 11415, Saudi Arabia","institution_ids":["https://openalex.org/I2800965796"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090884228","display_name":"Zuhair N. Al\u2010Hassnan","orcid":"https://orcid.org/0000-0002-7173-2044","observed_orcids":["https://orcid.org/0000-0002-7173-2044"]},"institutions":[{"id":"https://openalex.org/I2800965796","display_name":"King Faisal Specialist Hospital & Research Centre","ror":"https://ror.org/05n0wgt02","country_code":"SA","type":"healthcare","lineage":["https://openalex.org/I2800965796"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Zuhair N. Al-Hassnan","raw_affiliation_strings":["Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia","institution_ids":["https://openalex.org/I2800965796"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5046245682","display_name":"Heba M. Al-Qattan","orcid":"https://orcid.org/0000-0001-8645-6794","observed_orcids":["https://orcid.org/0000-0001-8645-6794"]},"institutions":[{"id":"https://openalex.org/I28022161","display_name":"King Saud University","ror":"https://ror.org/02f81g417","country_code":"SA","type":"education","lineage":["https://openalex.org/I28022161"]}],"countries":["SA"],"is_corresponding":true,"raw_author_name":"Heba M. Al-Qattan","raw_affiliation_strings":["Division of Plastic Surgery, King Saud University, PO Box 18097, Riyadh, 11415, Saudi Arabia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Plastic Surgery, King Saud University, PO Box 18097, Riyadh, 11415, Saudi Arabia","institution_ids":["https://openalex.org/I28022161"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5028221527","https://openalex.org/A5046245682"],"corresponding_institution_ids":["https://openalex.org/I2800965796","https://openalex.org/I28022161","https://openalex.org/I2802517405","https://openalex.org/I4517696"],"apc_list":{"value":2290,"currency":"USD","value_usd":2290},"apc_paid":{"value":2290,"currency":"USD","value_usd":2290},"fwci":2.4071,"has_fulltext":true,"cited_by_count":9,"citation_normalized_percentile":{"value":0.84868421,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":95},"biblio":{"volume":"20","issue":"1","first_page":"12","last_page":"12"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13107","display_name":"Congenital limb and hand anomalies","score":0.8730000257492065,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental 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/T13107","display_name":"Congenital limb and hand anomalies","score":0.8730000257492065,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental 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/T11642","display_name":"Genomics and Rare Diseases","score":0.11219999939203262,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T11310","display_name":"Connective tissue disorders research","score":0.004800000227987766,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/creb-binding-protein","display_name":"CREB-binding protein","score":0.875},{"id":"https://openalex.org/keywords/ep300","display_name":"EP300","score":1.0},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.5709999799728394},{"id":"https://openalex.org/keywords/facial-dysmorphism","display_name":"facial dysmorphism","score":0.7820000052452087},{"id":"https://openalex.org/keywords/brachydactyly","display_name":"brachydactyly","score":0.8999999761581421},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.796999990940094}],"concepts":[{"id":"https://openalex.org/C2779253643","wikidata":"https://www.wikidata.org/wiki/Q666980","display_name":"Rubinstein\u2013Taybi syndrome","level":2,"score":0.9713501334190369},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6479898691177368},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6419089436531067},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5480282306671143},{"id":"https://openalex.org/C2776603820","wikidata":"https://www.wikidata.org/wiki/Q906517","display_name":"CREB-binding protein","level":5,"score":0.47656965255737305},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.43809792399406433},{"id":"https://openalex.org/C86339819","wikidata":"https://www.wikidata.org/wiki/Q407384","display_name":"Transcription factor","level":3,"score":0.06281018257141113},{"id":"https://openalex.org/C1629964","wikidata":"https://www.wikidata.org/wiki/Q106950729","display_name":"CREB","level":4,"score":0.0}],"mesh":[{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012415","descriptor_name":"Rubinstein-Taybi Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012415","descriptor_name":"Rubinstein-Taybi Syndrome","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D012529","descriptor_name":"Saudi Arabia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050881","descriptor_name":"E1A-Associated p300 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D050882","descriptor_name":"CREB-Binding Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1186/s12881-019-0747-5","doi":"https://doi.org/10.1186/s12881-019-0747-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12881-019-0747-5","pdf_url":"https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/s12881-019-0747-5","source":{"id":"https://openalex.org/S143585532","display_name":"BMC Medical Genetics","issn_l":"1471-2350","issn":["1471-2350"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","jufo-1","ki-jl-1","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Medical Genetics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:5309624","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC6330443","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmid:30635043","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30635043","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC medical genetics","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:6330443","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6330443/","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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Med Genet","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:79a36f6225b34882ad83f07a754f5ab4","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/79a36f6225b34882ad83f07a754f5ab4","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s12881-019-0747-5","doi":"https://doi.org/10.1186/s12881-019-0747-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12881-019-0747-5","pdf_url":"https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/s12881-019-0747-5","source":{"id":"https://openalex.org/S143585532","display_name":"BMC Medical Genetics","issn_l":"1471-2350","issn":["1471-2350"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","jufo-1","ki-jl-1","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Medical Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2914664166.pdf","grobid_xml":"https://content.openalex.org/works/W2914664166.grobid-xml"},"referenced_works_count":22,"referenced_works":["https://openalex.org/W1548211797","https://openalex.org/W1986668721","https://openalex.org/W2011782782","https://openalex.org/W2027874507","https://openalex.org/W2033465292","https://openalex.org/W2039180361","https://openalex.org/W2048342357","https://openalex.org/W2049796265","https://openalex.org/W2051640303","https://openalex.org/W2051978340","https://openalex.org/W2065520385","https://openalex.org/W2104722797","https://openalex.org/W2120412844","https://openalex.org/W2125397824","https://openalex.org/W2130978724","https://openalex.org/W2140771931","https://openalex.org/W2142568845","https://openalex.org/W2174046029","https://openalex.org/W2409309491","https://openalex.org/W2495326675","https://openalex.org/W2523361297","https://openalex.org/W6663377258"],"related_works":["https://openalex.org/W2150980431","https://openalex.org/W64864348","https://openalex.org/W4414339041","https://openalex.org/W3194271343","https://openalex.org/W2561108896","https://openalex.org/W2801908838","https://openalex.org/W4412725551","https://openalex.org/W2788094244","https://openalex.org/W2978620730","https://openalex.org/W2801647677"],"abstract_inverted_index":{"BACKGROUND:":[0],"Rubinstein-Taybi":[1],"syndrome":[2],"(RSTS)":[3],"Type":[4,37,163],"1":[5,38],"(OMIM":[6],"180849)":[7],"is":[8,91,124,156,171],"characterized":[9],"by":[10],"three":[11],"main":[12],"features:":[13,43],"intellectual":[14],"disability;":[15],"broad":[16,67],"and":[17,21,23,39,71,102,147,180],"frequently":[18],"angulated":[19],"thumbs":[20],"halluces;":[22],"characteristic":[24],"facial":[25,146],"dysmorphism.":[26],"CASE":[27],"PRESENTATION:":[28],"We":[29],"report":[30,135],"on":[31],"a":[32,44,51,57,85,116],"Saudi":[33],"boy":[34],"with":[35,66],"RSTS":[36,141,162],"the":[40,48,55,61,81,112,129,137,153,168,174,177,197,200],"following":[41],"distinct":[42,145],"midline":[45,58],"notch":[46],"of":[47,54,60,140,152,161,202],"upper":[49],"lip,":[50,63],"bifid":[52],"tip":[53],"tongue,":[56],"groove":[59],"lower":[62],"plump":[64],"fingers":[65],"/":[68],"flat":[69],"fingertips,":[70],"brachydactyly.":[72],"The":[73,100,150,165],"child":[74,101],"was":[75],"found":[76,107],"to":[77,93,108,126,142,158,189],"be":[78,109,159],"heterozygous":[79,110],"in":[80,95,111,128,167,199],"CREBBP":[82,154,204],"gene":[83,114,155,170,205],"for":[84,115],"sequence":[86,117],"variant":[87,118,151,166,179,195],"designated":[88,119],"c.4963del,":[89],"which":[90,123],"predicted":[92,125],"result":[94,127],"premature":[96],"protein":[97],"termination":[98],"p.Leu1655Cysfs*89.":[99],"his":[103],"father":[104,175],"were":[105],"also":[106],"EP300":[113,169,194],"c.586A":[120],">":[121],"G,":[122],"amino-acid":[130],"substitution":[131],"p.Ile196Val.":[132],"CONCLUSION:":[133],"Our":[134],"expands":[136],"clinical":[138],"spectrum":[139],"include":[143],"several":[144],"limb":[148],"features.":[149],"known":[157],"causative":[160],"1.":[164],"benign":[172,193],"since":[173],"carried":[176],"same":[178],"exhibited":[181],"no":[182],"abnormalities.":[183],"However,":[184],"functional":[185],"studies":[186],"are":[187],"required":[188],"investigate":[190],"if":[191],"this":[192],"influences":[196],"phenotype":[198],"presence":[201],"disease-causing":[203],"mutations.":[206]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2019-02-21T00:00:00"}
