(Q52914226)

9 May 2018

title

Congenital heart defects common in rhizomelic chondrodysplasia punctata. (English)

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9 May 2018

author

Michael B Bober

4

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9 May 2018

author name string

Angela L Duker

1

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9 May 2018

Grant Eldridge

2

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9 May 2018

Nancy E Braverman

3

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language of work or name

English

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publication date

26 September 2015

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9 May 2018

American Journal of Medical Genetics

published in

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9 May 2018

volume

170A

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9 May 2018

issue

1

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9 May 2018

page(s)

270-272

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9 May 2018

The neurology of rhizomelic chondrodysplasia punctata

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37404

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37404

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37404

Functions of plasmalogen lipids in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37404

Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37404

Rhizomelic chondrodysplasia punctata and cardiac pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37404

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37404

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37404

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37404

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37404

Natural history of rhizomelic chondrodysplasia punctata.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37404

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37404

1 reference

9 May 2018

PubMed ID

26408048

1 reference

9 May 2018