IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.
Wormser O, Perez Y, Dolgin V, Kamali B, Tangeman JA, Gradstein L, Yogev Y, Hadar N, Freund O, Drabkin M, Halperin D, Irron I, Grajales-Esquivel E, Del Rio-Tsonis K, Birnbaum RY, Akler G, Birk OS.
Wormser O, et al. Among authors: gradstein l.
NPJ Genom Med. 2023 Aug 14;8(1):22. doi: 10.1038/s41525-023-00364-x.
NPJ Genom Med. 2023.
PMID: 37580330
Free PMC article.