A Case Report of a Novel Homozygote Mutation Causing Severe Leydig Cell Hypoplasia: Insights into the Coexistence of Nonsense Mutation and Polymorphism in the Same LHCGR Gene Locus
November 2012
in “
Experimental and Clinical Endocrinology & Diabetes
”
Studysummary This case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.
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