Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract

Am J Med Genet A. 2014 Mar;164A(3):834-6. doi: 10.1002/ajmg.a.36336. Epub 2013 Dec 19.

Authors

Dayu Gai¹, Jillian Nicholl, Wendy Waters, Christopher P Barnett, Sui Yu

Affiliation

¹ University of Melbourne, Melbourne, Victoria, Australia.

PMID: 24357539
DOI: 10.1002/ajmg.a.36336

No abstract available

Publication types

Case Reports

MeSH terms

Cataract / genetics
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 16*
Comparative Genomic Hybridization
Humans
In Situ Hybridization, Fluorescence
Male
Membrane Proteins / genetics*
Phenotype*
Young Adult

Substances

Membrane Proteins
TMEM114 protein, human