Caricamento...
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...
Salvato in:
| Pubblicato in: | Orphanet J Rare Dis |
|---|---|
| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2020
|
| Soggetti: | |
| Accesso online: | 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 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|