Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics
Pathogenic variants in the <i>LMNA</i> gene cause a group of heterogeneous genetic disorders, called laminopathies. In particular, homozygous or compound heterozygous variants in <i>LMNA</i> have been associated with “mandibuloacral dysplasia type A” (MADA), an autosomal rece...
Main Authors: | Isabelle Jéru, Amira Nabil, Gehad El-Makkawy, Olivier Lascols, Corinne Vigouroux, Ebtesam Abdalla |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-09-01
|
Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/12/10/1508 |
Similar Items
-
Looking at New Unexpected Disease Targets in <i>LMNA</i>-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice
by: Héléna Mosbah, et al.
Published: (2020-03-01) -
Pycnodysostosis: In the Indian Population – A Case Report with Review of the Literature
by: Anuradha Yadav, et al.
Published: (2023-01-01) -
A novel gene mutation for multicentric osteolysis nodulosis and arthropathy: Case report and review of literature
by: Marjan Shakiba, et al.
Published: (2023-04-01) -
Partial Lipodystrophy and LMNA p.R545H Variant
by: Silvia Magno, et al.
Published: (2021-03-01) -
The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families
by: Jitka Jirečková, et al.
Published: (2019-02-01)