Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability. Simplex cases make up the vast majority of the reported cases with Kabuki syndrome, but parent-to-child...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Hannibal, Mark C., Buckingham, Kati J., Ng, Sarah B., Ming, Jeffrey E., Beck, Anita E., McMillin, Margaret J., Gildersleeve, Heidi I., Bigham, Abigail W., Tabor, Holly K., Mefford, Heather C., Cook, Joseph, Yoshiura, Koh-ichiro, Matsumoto, Tadashi, Matsumoto, Naomichi, Miyake, Noriko, Tonoki, Hidefumi, Naritomi, Kenji, Kaname, Tadashi, Nagai, Toshiro, Ohashi, Hirofumi, Kurosawa, Kenji, Hou, Jia-Wei, Ohta, Tohru, Liang, Deshung, Sudo, Akira, Morris, Colleen A., Banka, Siddharth, Black, Graeme C., Clayton-Smith, Jill, Nickerson, Deborah A., Zackai, Elaine H., Shaikh, Tamim H., Donnai, Dian, Niikawa, Norio, Shendure, Jay, Bamshad, Michael J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3121928/
https://ncbi.nlm.nih.gov/pubmed/21671394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34074
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados