De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects.
Ma M, Zheng Y, Lu S, Pan X, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Rosenfeld JA, Li-Kroeger D, Dutta D, Yamamoto S, Wangler MF; Undiagnosed Diseases Network; Glass IA, Strohbehn S, Blue E, Prontera P, Lalani SR, Bellen HJ.
Ma M, et al. Among authors: pan x.
medRxiv [Preprint]. 2024 Jan 9:2024.01.08.23300523. doi: 10.1101/2024.01.08.23300523.
medRxiv. 2024.
PMID: 38260438
Free PMC article.
Preprint.