Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. (Q46007910)

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20 March 2020

title

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1 (English)

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20 March 2020

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Björn Fischer-Zirnsak

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20 March 2020

Claus E Ott

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Stefan Mundlos

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20 March 2020

author name string

Phillipe Schröter

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20 March 2020

Paul J Coucke

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Claire Schlack

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Manrico Morroni

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Wolfgang Homann

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Eva Morava

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Anna Ficcadenti

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Uwe Kornak

12

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publication date

21 May 2014

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Molecular Genetics and Metabolism

20 March 2020

published in

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volume

112

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20 March 2020

page(s)

310-316

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20 March 2020

issue

4

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Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

20 March 2020

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Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome

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Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

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Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

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

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RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

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

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Autosomal recessive cutis laxa syndrome revisited

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

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Mutations in PYCR1 cause cutis laxa with progeroid features

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Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

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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

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Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

7 January 2021

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

7 January 2021

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Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

7 January 2021

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New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

7 January 2021

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

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The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2

7 January 2021

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

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Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

7 January 2021

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Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature

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Mechanisms for human genomic rearrangements

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