Phenotypic spectrum and management issues in Kabuki syndrome
โ Scribed by Hiroshi Kawame; Mark C. Hannibal; Louanne Hudgins; Roberta A. Pagon
- Book ID
- 117166647
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 521 KB
- Volume
- 134
- Category
- Article
- ISSN
- 1097-6833
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Kabuki Syndrome (KS) is a rare syndrome characterized by intellectual disability and multiple congenital abnormalities, in particular a distinct dysmorphic facial appearance. KS is caused by mutations in the MLL2 gene, encoding an H3K4 histone methyl transferase which acts as an epigenetic transcrip
We describe a girl with Niikawa-Kuroki (Kabuki) syndrome (NKS) with conical incisors, hypodontia, hypoplastic nails, and brittle hair. Abnormal teeth are common in NKS and support a hypothesis of autosomal dominant inheritance of the syndrome [Halal et al., 1989; Silengo et al., 1996]. Hair abnormal