Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum

Clin Genet. 2019 Feb;95(2):334-335. doi: 10.1111/cge.13456. Epub 2018 Oct 24.

Authors

T Michael Yates¹, Claire L M Langley²; DDD Study³; Detelina Grozeva⁴, F Lucy Raymond⁴, Diana S Johnson¹

Affiliations

¹ Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
² Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester, UK.
³ Wellcome Trust Sanger Institute, Cambridge, UK.
⁴ Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.

PMID: 30353918
DOI: 10.1111/cge.13456

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Child
Child, Preschool
Facies
Female
Genetic Association Studies* / methods
Genetic Predisposition to Disease*
Genetic Variation*
Genotype*
Histone Acetyltransferases / genetics*
Humans
Male
Pedigree
Phenotype*

Substances

Histone Acetyltransferases
KAT6B protein, human

Grants and funding