Homozygous GUCY2D Variant Linked to Blindness in Iranian Family
An Iranian study reports an independent observation of a homozygous GUCY2D variant in a patient with Leber congenital amaurosis, supported ...
Tag: Iranian family
Novel ALPL Splice-Site Mutation Identified as Cause of Severe Perinatal Hypophosphatasia
Whole exome sequencing of an aborted fetus from a consanguineous Iranian family identified a novel homozygous ALPL splice-site variant, c.863–2 ...
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