A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia
A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Frontometaphyseal dysplasia (FMD) type 2 is an autosomal dominant disorder characterized by skeletal abnormalities and caused by
MAP3K7
mutation. We identified a novel missense mutation in
TAB2
associated with FMD in a child with multiple congenital malformations. This case was diagnosed as FMD due to joint contractures and bone deformi...
Alternative Titles
Full title
A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2588170000
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2588170000
Other Identifiers
ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-021-00166-6
