On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness
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DOI: 10.1080/13816810.2017.1354384
Abstract: ABSTRACT The p.R713Q variant of the semaphorin‐4a‐encoding gene, SEMA4a, has been reported to cause autosomal dominant retinitis pigmentosa. Here we show three families with retinal degeneration in which unaffected family members are either homozygous or… read more here.
Keywords: disease causing; causing mutations; variants disease; case studies ... See more keywords
Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations: A case report
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DOI: 10.12998/wjcc.v8.i23.6197
Abstract: BACKGROUND Polyostotic fibrous dysplasia (PFD) is an uncommon developmental bone disease in which normal bone and marrow are replaced by pseudotumoral tissue. The etiology of PFD is unclear, but it is generally thought to be… read more here.
Keywords: bone; pfd; mutations case; fibrous dysplasia ... See more keywords