Article
A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
Clinical genetics - 1 Jul 2016
Waryah A M, Shahzad M, Shaikh H, Sheikh S A, Channa N A, Hufnagel R B, Makhdoom A, Riazuddin S, Ahmed Z M
Abstract excerpt
Skeletal dysplasias (SDs) are highly heterogeneous disorders composed of 40 clinical sub-types that are part of 456 well-delineated syndromes in humans. Here, we enrolled consanguineous kindred from a remote area of Sindh province of Pakistan, with 14 affected individuals suffering with short stature, kyphoscoliosis, joint dislocations, clubfoot, heart valve anomalies and progressive bilateral mixed hearing loss....
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