Cantú Syndrome Is Caused by Mutations in ABCC9

Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an exome-sequencing approach applied to one proband-parent trio and three unrelated single cases, we identified heterozygous mutations in ABCC9...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: van Bon, Bregje W.M., Gilissen, Christian, Grange, Dorothy K., Hennekam, Raoul C.M., Kayserili, Hülya, Engels, Hartmut, Reutter, Heiko, Ostergaard, John R., Morava, Eva, Tsiakas, Konstantinos, Isidor, Bertrand, Le Merrer, Martine, Eser, Metin, Wieskamp, Nienke, de Vries, Petra, Steehouwer, Marloes, Veltman, Joris A., Robertson, Stephen P., Brunner, Han G., de Vries, Bert B.A., Hoischen, Alexander
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3370286/
https://ncbi.nlm.nih.gov/pubmed/22608503
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.04.014
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados