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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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| Publicado no: | Clin Genet |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | 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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