A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia

Cranio‐lenticulo‐sutural dysplasia (CLSD; MIM 607812) is a rare or underdiagnosed condition, as only two families have been reported. The original family (Boyadjiev et al., Human Genetics, 2003, 113, 1–9 and Boyadjiev et al., Nature Genetics, 2006, 38, 1192–1197) showed recessive inheritance of the...

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Detalles Bibliográficos
Autores principales: Cisarova, Katarina, Garavelli, Livia, Caraffi, Stefano Giuseppe, Peluso, Francesca, Valeri, Lara, Gargano, Giancarlo, Gavioli, Sara, Trimarchi, Gabriele, Neri, Alberto, Campos‐Xavier, Belinda, Superti‐Furga, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291540/
https://www.ncbi.nlm.nih.gov/pubmed/34580982
http://dx.doi.org/10.1002/ajmg.a.62506

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