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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...

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Publicat a:BMC Pediatr
Autors principals: Krawiec, Paulina, Mełges, Beata, Pac-Kożuchowska, Elżbieta, Mroczkowska-Juchkiewicz, Agnieszka, Czerska, Kamila
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4790055/
https://ncbi.nlm.nih.gov/pubmed/26976018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-016-0581-2
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