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

• Main Authors: Zufit Hexner-Erlichman (Author), Boris Fichtman (Author), Yoav Zehavi (Author), Morad Khayat (Author), Haneen Jabaly-Habib (Author), Lee S. Izhaki-Tavor (Author), Moshe Dessau (Author), Orly Elpeleg (Author), Ronen Spiegel (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: 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...