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

Author

Patel N, Salih MA, Alshammari MJ, Abdulwahhab F, Adly N, Alzahrani F, Elgamal EA, Elkhashab HY, Al-Qattan M, and Alkuraya FS

Subjects
Abnormalities, Multiple genetics, Adolescent, Alleles, Arachnodactyly genetics, Blepharophimosis genetics, Contracture genetics, Craniofacial Abnormalities, Facies, Female, Genetic Heterogeneity, Humans, Male, Muscular Atrophy genetics, Pedigree, Saudi Arabia, Abnormalities, Multiple physiopathology, Arachnodactyly physiopathology, Blepharophimosis physiopathology, Contracture physiopathology, Muscular Atrophy physiopathology
Published
2014
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