Novel variants and phenotypes in NEUROG3 associated syndrome.
Karn WejaphikulKhomsak SrilanchakonWuttichart KamolvisitSupavadee JantasuwanKanokwan SantawongSiraprapa TongkobpetchThanakorn TheerapanonAlisara DamrongmaneeNattaphorn HongsawongNuthapong UkarapolPrapai DejkhamronVichit SupornsilchaiThantrira PorntaveetusVorasuk ShotelersukPublished in: The Journal of clinical endocrinology and metabolism (2022)
This study reported pituitary gland hypoplasia with multiple pituitary hormone deficiencies and proximal renal tubulopathy, and two newly identified NEUROG3 loss-of-function variants in the patients with NEUROG3 associated syndrome.