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Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis

RATIONALE: This study aimed to investigate the genetic mutation characteristics of Kallmann syndrome (KS) with CHARGE syndrome through the clinical features and genetic analysis of a pediatric patient with KS in one pedigree. PATIENT CONCERNS: Developmental disorders with olfactory abnormalities, de...

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Detalles Bibliográficos
Autores principales:	Wen, Jie, Pan, Li, Xu, Xuan, Wang, Jiang, Hu, Chen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076089/ https://www.ncbi.nlm.nih.gov/pubmed/29979396 http://dx.doi.org/10.1097/MD.0000000000011284

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