Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?
about
Mutations in PYCR1 cause cutis laxa with progeroid featuresGeroderma osteodysplastica. Report of a new family.Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature.Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2Golgi glycosylation and human inherited diseases.Unusual and recently described cutaneous atrophic disorders.Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.Cutis laxa autosomal recessive type II or wrinkly skin syndrome?Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix?Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a ChildA missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.Examining tissue composition, whole-bone morphology and mechanical behavior of GorabPrx1 mice tibiae: A mouse model of premature aging.A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction
P2860
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P2860
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?
description
2001 nî lūn-bûn
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2001 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հուլիսին հրատարակված գիտական հոդված
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2001年の論文
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2001年論文
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2001年論文
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2001年論文
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2001年論文
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2001年論文
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2001年论文
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name
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?
@ast
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?
@en
type
label
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?
@ast
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?
@en
prefLabel
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?
@ast
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?
@en
P2093
P2860
P356
P1476
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?
@en
P2093
P2860
P304
P356
10.1002/AJMG.1352
P577
2001-07-01T00:00:00Z