Xia-Gibbs Syndrome.
Chander V, Wangler M, Gibbs R, Murdock D.
Chander V, et al.
2021 Dec 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2021 Dec 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 34902026
Free Books & Documents.
Review.
GENETIC COUNSELING: XGS is an autosomal dominant disorder typically caused by a de novo pathogenic truncating variant in AHDC1. The risk to other family members is presumed to be low, but parental testing should be done when possible to confirm that the variant is de novo. …
GENETIC COUNSELING: XGS is an autosomal dominant disorder typically caused by a de novo pathogenic truncating variant in AHDC1. The r …