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The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in
- Source :
- Annals of clinical and laboratory science. 50(5)
- Publication Year :
- 2020
-
Abstract
- Aarskog-Scott syndrome (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X-linked recessive inheritance, characterized by short stature, facial dysmorphism, and skeletal abnormalities. We report the clinical and molecular analysis of a family with ASS. A 31-month-old boy and his cousin were initially mistaken for having Noonan syndrome owing to short stature and facial dysmorphism. Considering the family history, we suspected the possibility of an X-linked genetic disease and performed targeted gene panel sequencing; a novel hemizygous variant c.1192-1 GA in
Details
- ISSN :
- 15508080
- Volume :
- 50
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Annals of clinical and laboratory science
- Accession number :
- edsair.pmid..........03e3bb8368e010bd81e966a0ebfade0c