Article ID Journal Published Year Pages File Type
6182429 Fertility and Sterility 2013 4 Pages PDF
Abstract
Mutation analysis revealed that a missense mutation of KAL1 in two brothers with KS, while their mother was heterozygous for this missense mutation encoded by the single-nucleotide polymorphism rs2229013. Variant alleles of KAL1 related to X-linked recessive KS expand the spectrum of KAL1 mutations causing KS.
Related Topics
Health Sciences Medicine and Dentistry Obstetrics, Gynecology and Women's Health
Authors
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