A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency.

Ibrahim Mert Erbas Ahu Paketçi Sezer Acar Leman Damla Kotan Korcan Demir Ayhan Abaci Ece Böber

Published in: Journal of pediatric endocrinology & metabolism : JPEM (2020)

FGFR1 variants are among the causes of IHH and KS, which are inherited in an autosomal dominant manner and can be associated with midline defects. It should also be kept in mind that CPHD may be associated with FGFR1 variants in a subject with normal olfactory function.

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