Novel Variants and Phenotypes in NEUROG3-Associated Syndrome.

Karn Wejaphikul,Khomsak Srilanchakon,Wuttichart Kamolvisit,Supavadee Jantasuwan,Kanokwan Santawong,Siraprapa Tongkobpetch,Thanakorn Theerapanon,Alisara Damrongmanee,Nattaphorn Hongsawong,Nuthapong Ukarapol,Prapai Dejkhamron,Vichit Supornsilchai,Thantrira Porntaveetus,Vorasuk Shotelersuk

The Journal of clinical endocrinology and metabolism（2022）

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摘要

This study reported pituitary gland hypoplasia with multiple pituitary hormone deficiencies and proximal renal tubulopathy and 2 newly identified NEUROG3 loss-of-function variants in the patients with NEUROG3-associated syndrome.

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diabetes,enteroendocrine,insulin,intestine,neurogenin,pancreas

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