Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6182429 | Fertility and Sterility | 2013 | 4 Pages |
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.
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Authors
Shilin M.D., Hao M.S., Tao M.D., Guoqing M.D., Jihong M.D.,