Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay

The transforming growth factor-beta (TGFβ) signaling pathway is essential for palatogenesis and retinal development. Glycoprotein A repetitions predominant (GARP), encoded by LRRC32, is a TGFβ cell surface receptor that has been studied primarily in the context of cellular immunity. We identified a...

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Bibliographic Details
Published in:Eur J Hum Genet
Main Authors: Harel, Tamar, Levy-Lahad, Ephrat, Daana, Muhannad, Mechoulam, Hadas, Horowitz-Cederboim, Smadar, Gur, Michal, Meiner, Vardiella, Elpeleg, Orly
Format: Artigo
Language:Inglês
Published: Springer International Publishing 2019
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777458/
https://ncbi.nlm.nih.gov/pubmed/30976112
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0380-y
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