Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report

BACKGROUND: Heterozygous loss-of-function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene cause CHARGE syndrome characterized by various congenital anomalies. A majority of patients with CHARGE syndrome present with congenital hypogonadotropic hypogonadism (HH), and combined...

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Detalles Bibliográficos
Autores principales: Obata, Yoshinari, Takayama, Kana, Nishikubo, Hideyuki, Tobimatsu, Aoki, Matsuda, Izumi, Uehara, Yuhei, Maruo, Yumiko, Sho, Hiroyuki, Kosugi, Motohiro, Yasuda, Tetsuyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10210328/
https://www.ncbi.nlm.nih.gov/pubmed/37231428
http://dx.doi.org/10.1186/s12902-023-01373-8

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