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

Abstract 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 in...

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Hauptverfasser: Meng Ren, Jingru Shi, Jinmeng Jia, Yongli Guo, Xin Ni, Tieliu Shi
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2020-04-01
Schriftenreihe:Orphanet Journal of Rare Diseases
Schlagworte:
Berardinelli-Seip congenital lipodystrophy
Genotype
Phenotype
Gene prediction
Protein-protein interaction
Phenotype-similarity
Online Zugang:http://link.springer.com/article/10.1186/s13023-020-01383-y
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