Single-exon deletions of ZNRF3 exon 2 cause congenital adrenal hypoplasia.

Naoko AmanoSatoshi NarumiKatsuya AizuMari MiyazawaKohji OkamuraHirofumi OhashiNoriyuki Katsumata Tomohiro IshiiTomonobu Hasegawa

Published in: The Journal of clinical endocrinology and metabolism (2023)

We provided genetic evidence linking deletions encompassing ZNRF3 exon 2 and congenital adrenal hypoplasia, which might be related to constitutive inactivation of Wnt/β-catenin signaling by ΔEx2-ZNRF3.

Keyphrases

stem cells
cell proliferation
genome wide
gene expression
copy number
dna methylation