AB132. The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome

OBJECTIVE: To present the clinical, genetic, biochemical, and molecular findings in two Chinese siblings with X-linked recessive Kallmann syndrome (KS). DESIGN: Case report. SETTING: University medical center. PATIENT(S): Two Chinese siblings. INTERVENTION(S): Clinical evaluation, hormone assays, an...

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Detalles Bibliográficos
Autores principales: Zhang, Shilin, Xu, Hao, Wang, Tao, Liu, Guoqing, Liu, Jihong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2014
Materias:
Abstract Publication Urology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4708518/
http://dx.doi.org/10.3978/j.issn.2223-4683.2014.s132

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4708518/
http://dx.doi.org/10.3978/j.issn.2223-4683.2014.s132

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