Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans
نویسندگان
چکیده
The authors describe 5 patients with Cardio-Facio-Cutaneous (CFC) syndrome features of septo−optic dysplasia (SOD), and GH/IGF−1 deficiency variable degree. All were identified to carry a gain−of−function mutation in BRAF.
منابع مشابه
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ژورنال
عنوان ژورنال: Yearbook of pediatric endocrinology
سال: 2021
ISSN: ['1662-3991', '1662-4009']
DOI: https://doi.org/10.1530/ey.18.1.7