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Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl
BACKGROUND: Familial partial lipodystrophy of the Dunnigan type (FPLD 2) is a rare autosomal dominant disorder caused by the mutations of the lamin A/C gene leading to the defective adipogenesis, premature death of adipocytes and lipotoxicity. FPLD 2 is characterized by a progressive loss of subcuta...
Autores principales: | Krawiec, Paulina, Mełges, Beata, Pac-Kożuchowska, Elżbieta, Mroczkowska-Juchkiewicz, Agnieszka, Czerska, Kamila |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4790055/ https://www.ncbi.nlm.nih.gov/pubmed/26976018 http://dx.doi.org/10.1186/s12887-016-0581-2 |
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