Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction

BACKGROUND: Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous autosomal recessive disorder characterized by an almost total lack of adipose tissue in the body. Mutations in the AGPAT2, BSCL2, CAV1 and PTRF genes define I-IV subtype of BSLC respectively and clinical data indicate t...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Ren, Meng, Shi, Jingru, Jia, Jinmeng, Guo, Yongli, Ni, Xin, Shi, Tieliu
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7191718/
https://ncbi.nlm.nih.gov/pubmed/32349771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01383-y
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