(Q39819541)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17971833%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation (English)

1 reference

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9 January 2020

0 references

1 reference

1 reference

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3

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9 January 2020

Jolanta Sykut-Cegielska

7

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9 January 2020

author name string

Morava E

1

1 reference

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9 January 2020

Lefeber DJ

2

1 reference

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9 January 2020

de Meirleir L

4

1 reference

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9 January 2020

Meinecke P

5

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9 January 2020

Gillessen Kaesbach G

6

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9 January 2020

Adamowicz M

8

1 reference

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9 January 2020

Salafsky I

9

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9 January 2020

Ranells J

10

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9 January 2020

Lemyre E

11

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9 January 2020

van Reeuwijk J

12

1 reference

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9 January 2020

Brunner HG

13

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9 January 2020

Wevers RA

14

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9 January 2020

publication date

31 October 2007

1 reference

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European Journal of Human Genetics

9 January 2020

published in

1 reference

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9 January 2020

volume

16

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9 January 2020

issue

1

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9 January 2020

page(s)

28-35

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201947

9 January 2020

exact match

0 references

cites work

Congenital disorders of glycosylation: a review

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

7 January 2021

Congenital cutis laxa with ligamentous laxity and delayed development, Dandy‐Walker malformation and minor heart and osseous defects

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

7 January 2021

Facial anomalies in congenital cutis laxa with retarded growth and skeletal dysplasia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

7 January 2021

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

7 January 2021

Defective protein glycosylation in patients with cutis laxa syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

7 January 2021

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

7 January 2021

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

7 January 2021

Glyc-O-genetics of Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

7 January 2021

Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

7 January 2021

Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

7 January 2021

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

7 January 2021

Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

7 January 2021

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

7 January 2021

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201947

7 January 2021