A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia
Abstract 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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2021-10-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-021-00166-6 |