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Article

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

Genes - 26 Sept 2021

Jéru Isabelle, Nabil Amira, El-Makkawy Gehad, Lascols Olivier, Vigouroux Corinne, Abdalla Ebtesam

Abstract excerpt

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 mandibular hypoplasia, growth retardation mainly postnatal, pigmentary skin changes, progressive osteolysis of the distal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34680903
DOI: 10.3390/genes12101508
PMCID: PMC8535562

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Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics.PMID 34680903Read ↗

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