Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia
Sign Up to like & getrecommendations! Published in 2020 at "Andrologia"
DOI: 10.1111/and.13937
Abstract: The disorders of sexual development (DSD) represent an array of phenotypes with ambiguous genitalia. The present case had microphallus with fused and bifid scrotum and was initially assigned androgen insensitivity syndrome; however, sequencing of the… read more here.
Keywords: srd5a2 gene; gene case; case; gene ... See more keywords
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature
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DOI: 10.1186/s12881-017-0367-x
Abstract: BackgroundNiemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1… read more here.
Keywords: npc2 gene; gene case; disease; type ... See more keywords
Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report
Sign Up to like & getrecommendations! Published in 2018 at "BMC Medical Genetics"
DOI: 10.1186/s12881-018-0584-y
Abstract: BackgroundDyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients may be cared… read more here.
Keywords: variant; gene case; dkc1 gene; dyskeratosis congenita ... See more keywords