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Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family
BACKGROUND: Oculodentodigital syndrome (ODD; OMIM #164200) is a rare autosomal dominant disorder with pleiotropic effects. It is caused by mutation in gap junction protein α 1 (GJA1) gene which encodes connexion 43. ODD is characterised by symptoms i.e. craniofacial, neurologic, limb, ocular abnorma...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Specjalisci Dermatolodzy
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3399675/ https://ncbi.nlm.nih.gov/pubmed/22826718 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3315/jdcr.2012.1094 |
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