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

• Váldodahkkit: Zufit Hexner-Erlichman (Dahkki), Boris Fichtman (Dahkki), Yoav Zehavi (Dahkki), Morad Khayat (Dahkki), Haneen Jabaly-Habib (Dahkki), Lee S. Izhaki-Tavor (Dahkki), Moshe Dessau (Dahkki), Orly Elpeleg (Dahkki), Ronen Spiegel (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Frontiers Media S.A., 2022-05-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Cleft lip and/or cleft palate are a common group of birth defects that further classify into syndromic and non-syndromic forms. The syndromic forms are usually accompanied by additional physical or cognitive abnormalities. Isolated cleft palate syndromes are less common; however, they are associated...