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

Internet

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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