Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome

Clin Genet. 2014 May;85(5):492-4. doi: 10.1111/cge.12205. Epub 2013 Jun 27.

Authors

N Patel¹, M A Salih, M J Alshammari, F Abdulwahhab, N Adly, F Alzahrani, E A Elgamal, H Y Elkhashab, M Al-Qattan, F S Alkuraya

Affiliation

¹ Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

PMID: 23808541
DOI: 10.1111/cge.12205

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics
Abnormalities, Multiple / physiopathology*
Adolescent
Alleles
Arachnodactyly / genetics
Arachnodactyly / physiopathology*
Blepharophimosis / genetics
Blepharophimosis / physiopathology*
Contracture / genetics
Contracture / physiopathology*
Craniofacial Abnormalities
Facies
Female
Genetic Heterogeneity
Humans
Male
Muscular Atrophy / genetics
Muscular Atrophy / physiopathology*
Pedigree
Saudi Arabia

Supplementary concepts

Facial Dysmorphism with Multiple Malformations
Marden Walker like syndrome