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

• Published in: Case reports in genetics Vol. 2015; no. 2015; pp. 1 - 6
• Main Authors: Applegate, Carolyn, Batista, Denise A. S., Wohler, Elizabeth, Sheridan, Molly B., Hoover-Fong, Julie
• Format: Journal Article
• Language: English
• Published: Cairo, Egypt Hindawi Publishing Corporation 01.01.2015; Wiley
• Subjects: Case Report

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...