TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies.
Kalanithy JC, Mingardo E, Stegmann JD, Dhakar R, Dakal TC, Rosenfeld JA, Tan WH, Coury SA, Woerner AC, Sebastian J, Levy PA, Fleming LR, Waffenschmidt L, Lindenberg TT, Yilmaz Ö, Channab K, Babra BK, Christ A, Eiberger B, Hölzel S, Vidic C, Häberlein F, Ishorst N, Rodriguez-Gatica JE, Pezeshkpoor B, Kupczyk PA, Vanakker OM, Loddo S, Novelli A, Dentici ML, Becker A, Thiele H, Posey JE, Lupski JR, Hilger AC, Reutter HM, Merz WM, Dworschak GC, Odermatt B.
Kalanithy JC, et al. Among authors: sebastian j.
J Med Genet. 2024 Dec 23:jmg-2023-109799. doi: 10.1136/jmg-2023-109799. Online ahead of print.
J Med Genet. 2024.
PMID: 39715634
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