De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.
de Koning MA, Pimienta Ramirez PA, Haak MC, Han X, Ruiterkamp-Versteeg MH, de Leeuw N, Schatz UA, Shoukier M, Rieger-Fackeldey E, Ortiz JU, van Duinen SG, Klein WM, Witlox RSGM, Finnell RH, Santen GWE, Lei Y, Suerink M.
de Koning MA, et al. Among authors: witlox rsgm.
J Med Genet. 2024 May 21;61(6):549-552. doi: 10.1136/jmg-2023-109698.
J Med Genet. 2024.
PMID: 38272662