Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

As part of a large-scale, systematic effort to unravel the molecular causes of autosomal recessive mental retardation, we have previously described a novel syndrome consisting of mental retardation, coloboma, cataract and kyphosis (Kahrizi syndrome, OMIM 612713) and mapped the underlying gene to a 1...

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Bibliographische Detailangaben
Hauptverfasser: Kahrizi, Kimia, Hu, Cougar Hao, Garshasbi, Masoud, Abedini, Seyedeh Sedigheh, Ghadami, Shirin, Kariminejad, Roxana, Ullmann, Reinhard, Chen, Wei, Ropers, H-Hilger, Kuss, Andreas W, Najmabadi, Hossein, Tzschach, Andreas
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2011
Schlagworte:
Short Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3039499/
https://ncbi.nlm.nih.gov/pubmed/20700148
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.132
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