Homozygous Stop-Gain Variant in LRRC32, Encoding a TGFβ Receptor, Associated with Cleft Palate, Proliferative Retinopathy, and Developmental Delay
European Journal of Human Genetics(2019)
Key words
Consanguinity,Medical genetics,Biomedicine,general,Human Genetics,Bioinformatics,Gene Expression,Cytogenetics
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