Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation
about
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndromeOverlapping syndromes in laminopathies: a meta-analysis of the reported literatureDiseases of the nuclear envelope.An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.Inner nuclear membrane proteins: impact on human disease.Human lipodystrophies: genetic and acquired diseases of adipose tissue.Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern ChinaType B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.Atypical progeroid syndrome due to heterozygous missense LMNA mutations.Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxideClinical and genetic heterogeneity in laminopathies.Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations.Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.Lamins and bone disorders: current understanding and perspectives.Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.
P2860
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P2860
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation
description
2008 nî lūn-bûn
@nan
2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Severe mandibuloacral dysplasi ...... zygous Arg527Cys LMNA mutation
@ast
Severe mandibuloacral dysplasi ...... zygous Arg527Cys LMNA mutation
@en
Severe mandibuloacral dysplasi ...... zygous Arg527Cys LMNA mutation
@nl
type
label
Severe mandibuloacral dysplasi ...... zygous Arg527Cys LMNA mutation
@ast
Severe mandibuloacral dysplasi ...... zygous Arg527Cys LMNA mutation
@en
Severe mandibuloacral dysplasi ...... zygous Arg527Cys LMNA mutation
@nl
prefLabel
Severe mandibuloacral dysplasi ...... zygous Arg527Cys LMNA mutation
@ast
Severe mandibuloacral dysplasi ...... zygous Arg527Cys LMNA mutation
@en
Severe mandibuloacral dysplasi ...... zygous Arg527Cys LMNA mutation
@nl
P2093
P2860
P356
P1476
Severe mandibuloacral dysplasi ...... zygous Arg527Cys LMNA mutation
@en
P2093
Abhimanyu Garg
Anil K Agarwal
Irina Kazachkova
Svetlana Ten
P2860
P304
P356
10.1210/JC.2008-0123
P407
P577
2008-12-01T00:00:00Z