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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Hoofdauteurs: Kim, Soo Jin, Cho, Sung Yoon, Maeng, Se Hyun, Sohn, Young Bae, Kim, Su-Jin, Ki, Chang-Seok, Jin, Dong-Kyu
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The Korean Pediatric Society 2013
Onderwerpen:
Case Report
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items