A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who ha...

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Hlavní autoři: Kim, Soo Jin, Cho, Sung Yoon, Maeng, Se Hyun, Sohn, Young Bae, Kim, Su-Jin, Ki, Chang-Seok, Jin, Dong-Kyu
Médium: Artigo
Jazyk:Inglês
Vydáno: The Korean Pediatric Society 2013
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3764261/
https://ncbi.nlm.nih.gov/pubmed/24019847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2013.56.8.355
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