Single-exon deletions of ZNRF3 exon 2 cause congenital adrenal hypoplasia
Naoko Amano, Satoshi Narumi, Katsuya Aizu, Mari Miyazawa, K. Okamura, Hirofumi Ohashi, Noriyuki Katsumata, Tomohiro Ishii, Tomonobu Hasegawa
The paper identifies single-exon deletions in ZNRF3 exon 2 as a cause of congenital adrenal hypoplasia by disrupting Wnt/β-catenin signaling.
The Journal of Clinical Endocrinology & Metabolism · Oct 25, 2023Peer-reviewedGenetic & Genomic Medicine