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

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...

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Detalles Bibliográficos
Autores principales: Hexner-Erlichman, Zufit, Fichtman, Boris, Zehavi, Yoav, Khayat, Morad, Jabaly-Habib, Haneen, Izhaki-Tavor, Lee S., Dessau, Moshe, Elpeleg, Orly, Spiegel, Ronen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9152136/
https://www.ncbi.nlm.nih.gov/pubmed/35656379
http://dx.doi.org/10.3389/fped.2022.859034

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