A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred

Skeletal dysplasias are highly heterogeneous disorders composed of 40 clinical subtypes 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 fourteen affected individuals suffering with short stature...

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Detaylı Bibliyografya
Yayımlandı:Clin Genet
Asıl Yazarlar: Waryah, Ali M., Shahzad, Mohsin, Shaikh, Hina, Sheikh, Shakeel A., Channa, Naseem A., Hufnagel, Robert B., Makhdoom, Asadullah, Riazuddin, Saima, Ahmed, Zubair M.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2015
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4870159/
https://ncbi.nlm.nih.gov/pubmed/26572954
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12694
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