{"id":"https://openalex.org/W7155488628","doi":"https://doi.org/10.1093/med/9780197809020.003.0051","title":"Galloway-Mowat Syndrome 2","display_name":"Galloway-Mowat Syndrome 2","publication_year":2026,"publication_date":"2026-04-01","ids":{"openalex":"https://openalex.org/W7155488628","doi":"https://doi.org/10.1093/med/9780197809020.003.0051"},"language":"en","primary_location":{"id":"doi:10.1093/med/9780197809020.003.0051","doi":"https://doi.org/10.1093/med/9780197809020.003.0051","is_oa":false,"landing_page_url":"https://doi.org/10.1093/med/9780197809020.003.0051","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Atlas of X-Linked Intellectual Disability Syndromes","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W7155547984","display_name":"Atlas of X-Linked Intellectual Disability Syndromes"},"type":"book-chapter","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5134510987","display_name":"Charles E. Schwartz","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Charles E. Schwartz","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050097716","display_name":"Roger E. Stevenson","orcid":"https://orcid.org/0000-0002-1806-6345","observed_orcids":["https://orcid.org/0000-0002-1806-6345"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Roger E. Stevenson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5100453630","display_name":"Tao Wang","orcid":"https://orcid.org/0000-0002-9697-4082","observed_orcids":["https://orcid.org/0000-0002-9697-4082"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tao Wang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.27753024,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"112","last_page":"112"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.7167999744415283,"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"}},"topics":[{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.7167999744415283,"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/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.13040000200271606,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.09730000048875809,"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/x-linked-intellectual-disability","display_name":"X-linked intellectual disability","score":0.8270000219345093},{"id":"https://openalex.org/keywords/microcephaly","display_name":"microcephaly","score":0.9860000014305115},{"id":"https://openalex.org/keywords/cerebellar-hypoplasia","display_name":"cerebellar hypoplasia","score":1.0},{"id":"https://openalex.org/keywords/nephrotic-syndrome","display_name":"nephrotic syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/glomerular-lesions","display_name":"glomerular lesions","score":0.7509999871253967},{"id":"https://openalex.org/keywords/craniofacial-dysmorphism","display_name":"craniofacial dysmorphism","score":0.8569999933242798},{"id":"https://openalex.org/keywords/hypertelorism","display_name":"hypertelorism","score":0.6909999847412109},{"id":"https://openalex.org/keywords/micrognathia","display_name":"micrognathia","score":0.8970000147819519},{"id":"https://openalex.org/keywords/scoliosis","display_name":"scoliosis","score":0.8410000205039978},{"id":"https://openalex.org/keywords/arachnodactyly","display_name":"arachnodactyly","score":0.9950000047683716},{"id":"https://openalex.org/keywords/intrauterine-growth-restriction","display_name":"fetal growth restriction","score":0.8659999966621399},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.9610000252723694},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.7940000295639038},{"id":"https://openalex.org/keywords/x-chromosome-inactivation","display_name":"X chromosome inactivation","score":0.7049999833106995},{"id":"https://openalex.org/keywords/female-carriers","display_name":"female carriers","score":0.7509999871253967}],"concepts":[{"id":"https://openalex.org/C2776395126","wikidata":"https://www.wikidata.org/wiki/Q431643","display_name":"Microcephaly","level":2,"score":0.9722999930381775},{"id":"https://openalex.org/C2781245598","wikidata":"https://www.wikidata.org/wiki/Q5182134","display_name":"Craniofacial","level":2,"score":0.6815000176429749},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6660000085830688},{"id":"https://openalex.org/C2780955175","wikidata":"https://www.wikidata.org/wiki/Q174857","display_name":"Scoliosis","level":2,"score":0.5457000136375427},{"id":"https://openalex.org/C2778930706","wikidata":"https://www.wikidata.org/wiki/Q504790","display_name":"Nephrotic syndrome","level":2,"score":0.5297999978065491},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.454800009727478},{"id":"https://openalex.org/C2777053367","wikidata":"https://www.wikidata.org/wiki/Q202864","display_name":"Zika virus","level":3,"score":0.3400999903678894},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.33000001311302185},{"id":"https://openalex.org/C3020705096","wikidata":"https://www.wikidata.org/wiki/Q5253500","display_name":"Growth retardation","level":3,"score":0.3057999908924103},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2865999937057495},{"id":"https://openalex.org/C2992981700","wikidata":"https://www.wikidata.org/wiki/Q727096","display_name":"Congenital disease","level":2,"score":0.2671000063419342},{"id":"https://openalex.org/C3019607859","wikidata":"https://www.wikidata.org/wiki/Q727096","display_name":"Congenital malformations","level":3,"score":0.266400009393692},{"id":"https://openalex.org/C2909602630","wikidata":"https://www.wikidata.org/wiki/Q179630","display_name":"Genetic syndromes","level":2,"score":0.26510000228881836},{"id":"https://openalex.org/C2779300802","wikidata":"https://www.wikidata.org/wiki/Q13147","display_name":"Skull","level":2,"score":0.25859999656677246}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1093/med/9780197809020.003.0051","doi":"https://doi.org/10.1093/med/9780197809020.003.0051","is_oa":false,"landing_page_url":"https://doi.org/10.1093/med/9780197809020.003.0051","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Atlas of X-Linked Intellectual Disability Syndromes","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8560000061988831}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W28419136","https://openalex.org/W2039726699","https://openalex.org/W2123481566","https://openalex.org/W2084758601","https://openalex.org/W4319590465","https://openalex.org/W2606441658","https://openalex.org/W2078547108","https://openalex.org/W2071162595","https://openalex.org/W3031632208","https://openalex.org/W2397279177"],"abstract_inverted_index":{"Abstract":[0],"This":[1],"chapter":[2],"provides":[3],"clinical":[4],"details":[5],"of":[6],"Galloway-Mowat":[7],"syndrome":[8],"2,":[9],"an":[10],"XLID":[11],"with":[12,32,50,82],"microcephaly":[13,49,83],"due":[14],"to":[15],"neuronal":[16],"migration":[17],"anomalies":[18],"and":[19,24,41,58,75,84,96],"cerebellar":[20],"hypoplasia,":[21],"nephrotic":[22,69],"syndrome,":[23],"lethality":[25],"in":[26,38,60],"early":[27,67],"childhood.":[28],"The":[29,44],"gene":[30],"associated":[31],"this":[33],"disorder,":[34],"LAGE3,":[35],"is":[36,88],"involved":[37],"transcriptions,":[39],"translation,":[40],"genome":[42],"maintenance.":[43],"typical":[45],"craniofacial":[46],"findings":[47],"are":[48,93],"narrow":[51],"forehead,":[52],"hypertelorism,":[53],"deep-set":[54],"eyes,":[55],"large":[56],"ears,":[57],"micrognathia":[59],"some":[61],"patients.":[62],"Glomerular":[63],"lesions":[64],"become":[65],"manifest":[66],"as":[68],"syndrome.":[70],"Some":[71],"patients":[72],"have":[73],"scoliosis":[74],"arachnodactyly.":[76],"Intrauterine":[77],"growth":[78],"impairment":[79],"continues":[80],"postnatally":[81],"short":[85],"stature.":[86],"Development":[87],"globally":[89],"delayed.":[90],"Carrier":[91],"females":[92],"clinically":[94],"normal":[95],"may":[97],"show":[98],"skewed":[99],"X-inactivation.":[100]},"counts_by_year":[],"updated_date":"2026-10-14T16:39:01.820549","created_date":"2026-04-25T00:00:00"}