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Tzschach et al., 2010 - Google Patents

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

Tzschach et al., 2010

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Document ID
1206703167678049656
Author
Tzschach A
Hu H
Ullmann R
Garshasbi M
Chen W
Ropers H
Kuss A
Kahrizi K
Abedini S
Ghadami S
Kariminejad R
Najmabadi H
Publication year
Publication venue
European Journal of Human Genetics

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Snippet

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 …
Continue reading at hal.science (PDF) (other versions)

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