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Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

OBJECTIVE: Heterozygous CHD7 mutations cause a broad spectrum of clinical phenotypes ranging from typical CHARGE syndrome to self-limited delayed puberty. This study aimed to investigate the clinical characteristics of endocrine dysfunction in patients with CHD7 mutations. METHODS: The clinical feat...

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Detalles Bibliográficos
Autores principales:	Kim, Ja Hye, Choi, Yunha, Hwang, Soojin, Kim, Gu-Hwan, Yoo, Han-Wook, Choi, Jin-Ho
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8859950/ https://www.ncbi.nlm.nih.gov/pubmed/35015700 http://dx.doi.org/10.1530/EC-21-0522

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