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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Detalles Bibliográficos
Autores principales: Sheridan, Molly B., Wohler, Elizabeth, Batista, Denise A. S., Applegate, Carolyn, Hoover-Fong, Julie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664784/
https://www.ncbi.nlm.nih.gov/pubmed/26664771
http://dx.doi.org/10.1155/2015/169482

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664784/
https://www.ncbi.nlm.nih.gov/pubmed/26664771
http://dx.doi.org/10.1155/2015/169482

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