A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3

Six individuals of consanguineous Bedouin kindred presented at infancy with an autosomal recessive syndrome of severe global developmental delay, positive pyramidal signs, unique dysmorphism, skeletal abnormalities, and severe failure to thrive with normal birth weights. Patients had a profound inte...

Descripción completa

Detalles Bibliográficos
Autores principales: Halperin, Daniel, Agam, Nadav, Hallak, Maher, Feinstein, Miora, Drabkin, Max, Yogev, Yuval, Wormser, Ohad, Shavit, Eitan, Gradstein, Libe, Shelef, Ilan, Mijalovsky, Aanalia, Flusser, Hagit, Birk, Ohad S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545274/
https://www.ncbi.nlm.nih.gov/pubmed/35443069
http://dx.doi.org/10.1111/cge.14143

Ejemplares similares

Ejemplares similares