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Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay
Harel, Tamar, Levy-Lahad, Ephrat, Daana, Muhannad, Mechoulam, Hadas, Horowitz-Cederboim, Smadar, Gur, Michal, Meiner, Vardiella, Elpeleg, OrlyLanguage:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/s41431-019-0380-y
Date:
April, 2019
File:
PDF, 649 KB
english, 2019