A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay

Authors: Zufit Hexner-Erlichman, Boris Fichtman, Yoav Zehavi, Morad Khayat, Haneen Jabaly-Habib, Lee S. Izhaki-Tavor, Moshe Dessau, Orly Elpeleg, Ronen Spiegel

Source: Frontiers in Pediatrics, Vol 10 (2022)

Subject Terms: cleft palate, retinopathy, TGF-β, LRRC32 gene, GARP protein, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.859034/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/087cf9bd0d9e459e85e1bb186eac1b0c

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