Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

Van den Ende-Gupta syndrome (VDEGS) is a congenital condition characterized by craniofacial and skeletal manifestations, specifically blepharophimosis, malar and maxillary hypoplasia, distinctive nose, arachnocamptodactyly, and long slender bones of the hands and feet. To date, only 24 patients have...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Bedeschi, M.F., Colombo, L., Mari, F., Hofmann, K., Rauch, A., Gentilin, B., Renieri, A., Clerici, D.
Format: Artigo
Langue:Inglês
Publié: S. Karger AG 2011
Sujets:
Short Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3214947/
https://ncbi.nlm.nih.gov/pubmed/22140376
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000328135
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