De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome

Say-Barber/Biesecker/Young-Simpson syndrome (SBBYSS; OMIM 603736) is a rare syndrome with multiple congenital anomalies/malformations. The clinical diagnosis is usually based on a phenotype with a mask-like face and severe blepharophimosis and ptosis as well as other distinctive facial traits. We pr...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Syndromol
Auteurs principaux: Lundsgaard, Malene, Le, Vang Q., Ernst, Anja, Laugaard-Jacobsen, Hans C., Rasmussen, Kirsten, Pedersen, Inge S., Petersen, Michael B.
Format: Artigo
Langue:Inglês
Publié: S. Karger AG 2017
Sujets:
Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5260604/
https://ncbi.nlm.nih.gov/pubmed/28232779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000452258
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