Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics

Pathogenic variants in the LMNA gene cause a group of heterogeneous genetic disorders, called laminopathies. In particular, homozygous or compound heterozygous variants in LMNA have been associated with “mandibuloacral dysplasia type A” (MADA), an autosomal recessive disorder, characterized by mandi...

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Detalles Bibliográficos
Autores principales: Jéru, Isabelle, Nabil, Amira, El-Makkawy, Gehad, Lascols, Olivier, Vigouroux, Corinne, Abdalla, Ebtesam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535562/
https://www.ncbi.nlm.nih.gov/pubmed/34680903
http://dx.doi.org/10.3390/genes12101508

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535562/
https://www.ncbi.nlm.nih.gov/pubmed/34680903
http://dx.doi.org/10.3390/genes12101508

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