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Article

The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing.

Annals of clinical and laboratory science - 1 Sept 2020

Bae Ga Young, Kim Min Sun, Kim Ji-Yeon, Jang Ja-Hyun, Lee Sae-Mi, Cho Sung Yoon, Jin Dong-Kyu

Abstract excerpt

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....

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PMID: 33067218

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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