X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing.
dc.contributor.author | McDermott, Helen | |
dc.contributor.author | Garikapati, Vidya | |
dc.contributor.author | Baptista, Júlia | |
dc.contributor.author | Gowda, Harsha | |
dc.contributor.author | Naik, Swati | |
dc.date.accessioned | 2024-10-08T10:41:33Z | |
dc.date.available | 2024-10-08T10:41:33Z | |
dc.date.issued | 2022-04-01 | |
dc.identifier.citation | McDermott H, Garikapati V, Baptista J, Gowda H, Naik S. X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing. Clin Dysmorphol. 2022 Apr 1;31(2):101-105. doi: 10.1097/MCD.0000000000000412 | en_US |
dc.identifier.issn | 0962-8827 | |
dc.identifier.eissn | 1473-5717 | |
dc.identifier.doi | 10.1097/MCD.0000000000000412 | |
dc.identifier.pmid | 35102032 | |
dc.identifier.uri | http://hdl.handle.net/20.500.14200/6059 | |
dc.description.abstract | No abstract available | en_US |
dc.language.iso | en | en_US |
dc.publisher | Lippincott Williams & Wilkins | en_US |
dc.subject | Genetics | en_US |
dc.title | X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing. | en_US |
dc.type | Article | en_US |
dc.source.journaltitle | Clinical Dysmorphology | en_US |
dc.source.volume | 31 | |
dc.source.issue | 2 | |
dc.source.beginpage | 101 | |
dc.source.endpage | 105 | |
dc.source.country | England | |
rioxxterms.version | NA | en_US |
dc.contributor.trustauthor | Garikapati, Vidya | |
dc.contributor.trustauthor | Gowda, Harsha | |
dc.contributor.department | Pediatrics | en_US |
dc.contributor.department | Neonates | en_US |
dc.contributor.role | Medical and Dental | en_US |
oa.grant.openaccess | na | en_US |