A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance
A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance
About this item
Full title
Author / Creator
Bai, Rui‐Qi , He, Wen‐Bin , Peng, Qian , Shen, Su‐Hui , Yu, Qian‐Qian , Du, Juan , Tan, Yue‐Qiu , Wang, Yue‐Hong and Liu, Bin‐Jie
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Background
Amelogenesis imperfecta (AI) is known to be a monogenic genetic disease caused by a variety of genes demonstrating a wide spectrum of penetrance. FAM83H is reported to be involved in AI: however, whether FAM83H causes AI with incomplete penetrance is unclear.
Methods
Whole‐exome sequencing was performed on two patients with AI,...
Alternative Titles
Full title
A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_2a22b93ebf3141c28ba7467808328de9
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2a22b93ebf3141c28ba7467808328de9
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1902
