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A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation.
Kishi H, Jojima T, Kogai T, Iijima T, Ohira E, Tanuma D, Konno S, Kato K, Kezuka A, Akimoto K, Sakumoto J, Hishinuma A, Tomaru T, Makita N, Usui I, Aso Y. Kishi H, et al. Among authors: sakumoto j. Clin Case Rep. 2020 Aug 14;8(12):2619-2624. doi: 10.1002/ccr3.3186. eCollection 2020 Dec. Clin Case Rep. 2020. PMID: 33363791 Free PMC article.