Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and FGFR3. Nine novel and three recurrent TWIST mutations were found in 12 families. Seven families were...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Paznekas, W A, Cunningham, M L, Howard, T D, Korf, B R, Lipson, M H, Grix, A W, Feingold, M, Goldberg, R, Borochowitz, Z, Aleck, K, Mulliken, J, Yin, M, Jabs, E W
Formato: Artigo
Lenguaje:Inglês
Publicado: 1998
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377134/
https://ncbi.nlm.nih.gov/pubmed/9585583
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares