The genetics of cholesteatoma study. Loss-of-function variants in an affected family

Clin Otolaryngol. 2019 Sep;44(5):826-830. doi: 10.1111/coa.13365. Epub 2019 Jul 23.

Authors

Peter Prinsley^{1

2}, Barbara A Jennings¹, Mahmood Bhutta³, Daniel Swan⁴, Gavin Willis⁵, Carl Philpott^{1

2}

Affiliations

¹ Norwich Medical School, University of East Anglia, Norwich, UK.
² ENT Department, James Paget University Hospitals NHS Foundation Trust, Great Yarmouth, UK.
³ ENT Department, Brighton & Sussex University Hospitals, Brighton, UK.
⁴ NCIMB Ltd., Aberdeen, UK.
⁵ Department of Molecular Genetics, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich, UK.

PMID: 31099479
DOI: 10.1111/coa.13365

No abstract available

MeSH terms

Butyrophilins / genetics*
Butyrophilins / metabolism
Calcium-Binding Proteins / genetics*
Calcium-Binding Proteins / metabolism
Cholesteatoma, Middle Ear / genetics*
Cholesteatoma, Middle Ear / physiopathology
EGF Family of Proteins / genetics*
EGF Family of Proteins / metabolism
Exome Sequencing / methods*
Female
Genetic Predisposition to Disease*
Humans
Male
Pedigree

Substances

BTNL9 protein, human
Butyrophilins
Calcium-Binding Proteins
EGF Family of Proteins
EGFL8 protein, human