De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction (Q58545518)

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25 January 2020

title

De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction (English)

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Björn Fischer-Zirnsak

3

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25 January 2020

Carlo Dionisi-Vici

6

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25 January 2020

Emanuele Agolini

7

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Emanuele Agolini

8

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Giuseppe Novelli

11

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author name string

Stefania Zampatti

1

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25 January 2020

Paola Ferrari

4

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25 January 2020

Livia Garavelli

5

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Anita Wischmeijer

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25 January 2020

Eva Morava

10

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25 January 2020

Johannes Häberle

12

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Uwe Kornak

13

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25 January 2020

Francesco Brancati

14

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language of work or name

English

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publication date

12 March 2012

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American Journal of Medical Genetics

25 January 2020

published in

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volume

158A

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25 January 2020

page(s)

927-931

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issue

4

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Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?

25 January 2020

cites work

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https://api.crossref.org/works/10.1002%2FAJMG.A.35231

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35231

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35231

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35231

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35231

21 January 2018

The De Barsy syndrome

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https://api.crossref.org/works/10.1002%2FAJMG.A.35231

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35231

De Barsy syndrome: a review of the phenotype

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35231

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35231

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35231

De Barsy syndrome--an autosomal recessive, progeroid syndrome.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35231

De Barsy syndrome and ATP6V0A2-CDG

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35231

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35231

Metabolic cutis laxa syndromes

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35231

Autosomal recessive cutis laxa syndrome revisited

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35231

Gerodermia osteodysplastica/wrinkly skin syndrome: Report of three patients and brief review of the literature

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35231

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35231

Mutations in PYCR1 cause cutis laxa with progeroid features

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35231

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35231

Photo essay--geroderma osteodysplastica.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35231

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.35231

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22411858%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

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