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...

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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup: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
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