Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder

Interstitial deletions of 16q24.1–q24.2 are associated with alveolar capillary dysplasia, congenital renal malformations, neurodevelopmental disorders, and congenital abnormalities. Lymphedema–Distichiasis syndrome (LDS; OMIM # 153400) is a dominant condition caused by heterozygous pathogenic varian...

Descripción completa

Detalles Bibliográficos
Autores principales: Michelson, Marina, Lidzbarsky, Gabriel, Nishri, Daniella, Israel‐Elgali, Ifat, Berger, Rachel, Gafner, Michal, Shomron, Noam, Lev, Dorit, Goldberg, Yael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314700/
https://www.ncbi.nlm.nih.gov/pubmed/35312147
http://dx.doi.org/10.1002/ajmg.a.62730

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314700/
https://www.ncbi.nlm.nih.gov/pubmed/35312147
http://dx.doi.org/10.1002/ajmg.a.62730

Ejemplares similares