BAC-FISH refutes report of an 8p22–8p23.1 inversion or duplication in 8 patients with Kabuki syndrome

BACKGROUND: Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. The syndrome is characterized by varying degrees of mental retardation, postnatal growth retardation, distinct facial characteristics resembling the Kabuki actor's make-up, cleft or high-arched palate, bra...

Descripción completa

Detalles Bibliográficos
Autores principales: Kimberley, Kendra W, Morris, Colleen A, Hobart, Holly H
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1513556/
https://www.ncbi.nlm.nih.gov/pubmed/16709256
http://dx.doi.org/10.1186/1471-2350-7-46

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1513556/
https://www.ncbi.nlm.nih.gov/pubmed/16709256
http://dx.doi.org/10.1186/1471-2350-7-46

Ejemplares similares