Activating FGFR2 variant identified as causing mosaic neurocutaneous syndrome
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes
Schmidt J, Kaulfuß S, Ott H, Gaubert M, Reintjes N, Bremmer F, Dreha-Kulaczewski S, Stroebel P, Yigit G, Wollnik B.
Hum Genet 2024 Jan 24. doi: 10.1007/s00439-023-02634-1. Epub ahead of print.