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Case Reports
. 2024 May 6;17(5):e260013.
doi: 10.1136/bcr-2024-260013.

Mandibuloacral dysplasia type A

Affiliations
Case Reports

Mandibuloacral dysplasia type A

Urmila Dahake et al. BMJ Case Rep. .
No abstract available

Keywords: Failure to thrive; Genetics; Skin.

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Conflict of interest statement

Competing interests: None declared.

References

    1. Novelli G, Muchir A, Sangiuolo F, et al. . Mandibuloacral dysplasia is caused by a Mutation in LMNA-Encoding Lamin A/C. Am J Hum Genet 2002;71:426–31. 10.1086/341908 - DOI - PMC - PubMed
    1. Garavelli L, D’Apice MR, Rivieri F, et al. . Mandibuloacral dysplasia type A in childhood. Am J Med Genet A 2009;149A:2258–64. 10.1002/ajmg.a.33005 - DOI - PubMed
    1. Luo D-Q, Wang X-Z, Meng Y, et al. . Mandibuloacral dysplasia type A-associated Progeria caused by homozygous LMNA Mutation in a family from Southern China. BMC Pediatr 2014;14:256. 10.1186/1471-2431-14-256 - DOI - PMC - PubMed

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