Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.
about
Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severityType B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneityNew ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.A population-based study of autosomal-recessive disease-causing mutations in a founder populationDistal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption.A Case of Restrictive Dermopathy with Novel ZMPSTE24 Gene MutationPhenotypic heterogeneity of ZMPSTE24 deficiency
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P2860
Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.
description
2008 nî lūn-bûn
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2008年の論文
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2008年学术文章
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2008年学术文章
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2008年学术文章
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2008年学术文章
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2008年学术文章
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2008年學術文章
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2008年學術文章
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2008年學術文章
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name
Restrictive dermopathy--a leth ...... and review of the literature.
@en
Restrictive dermopathy--a leth ...... and review of the literature.
@nl
type
label
Restrictive dermopathy--a leth ...... and review of the literature.
@en
Restrictive dermopathy--a leth ...... and review of the literature.
@nl
prefLabel
Restrictive dermopathy--a leth ...... and review of the literature.
@en
Restrictive dermopathy--a leth ...... and review of the literature.
@nl
P2093
P50
P1476
Restrictive dermopathy--a leth ...... t and review of the literature
@en
P2093
Huong Le Thi Thanh
Manfred Wehnert
Manuela Rodrigues
Maria do Céu Ribeiro
Paulo Morais
P2888
P304
P356
10.1007/S00431-008-0868-X
P577
2008-11-20T00:00:00Z