Cargando...

Warsaw Breakage Syndrome: Further Clinical and Genetic Delineation

Warsaw breakage syndrome (WBS) is a recently recognized DDX11-related rare cohesinopathy, characterized by severe prenatal and postnatal growth restriction, microcephaly, developmental delay, cochlear anomalies and sensorineural hearing loss. Only seven cases have been reported in the English litera...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Am J Med Genet A
Autores principales: Alkhunaizi, Ebba, Shaheen, Ranad, Bharti, Sanjay Kumar, Joseph-George, Ann M., Chong, Karen, Abdel-Salam, Ghada M H, Alowain, Mohammed, Blaser, Susan I, Papsin, Blake C, Butt, Mohammed, Hashem, Mais, Martin, Nicole, Godoy, Ruth, Brosh, Robert M., Alkuraya, Fowzan S, Chitayat, David
Formato: Artigo
Lenguaje:Inglês
Publicado: 2018
Materias:
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6289708/
https://ncbi.nlm.nih.gov/pubmed/30216658
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.40482
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!