The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

Two consanguineous Qatari siblings presented for evaluation: a 17-4/12-year-old male with hypogonadotropic hypogonadism, alopecia, intellectual disability, and microcephaly and his 19-year-old sister with primary amenorrhea, alopecia, and normal cognition. Both required hormone treatment to produce...

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Bibliographic Details
Main Authors: Molly B. Sheridan, Elizabeth Wohler, Denise A. S. Batista, Carolyn Applegate, Julie Hoover-Fong
Format: Article
Language:English
Published: Hindawi Limited 2015-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2015/169482