(Q53843179)

20 May 2018

title

Growth charts for individuals with rhizomelic chondrodysplasia punctata. (English)

1 reference

20 May 2018

author

Michael B Bober

6

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20 May 2018

author name string

Angela L Duker

1

1 reference

20 May 2018

Tim Niiler

2

1 reference

20 May 2018

Grant Eldridge

3

1 reference

20 May 2018

Nga H Brereton

4

1 reference

20 May 2018

Nancy E Braverman

5

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20 May 2018

language of work or name

English

0 references

publication date

12 September 2016

1 reference

20 May 2018

American Journal of Medical Genetics

published in

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20 May 2018

volume

173

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20 May 2018

issue

1

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20 May 2018

page(s)

108-113

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20 May 2018

The neurology of rhizomelic chondrodysplasia punctata

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37961

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37961

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.37961

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.37961

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37961

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.37961

Congenital heart defects common in rhizomelic chondrodysplasia punctata.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37961

Rhizomelic chondrodysplasia punctata and cardiac pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37961

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.37961

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.37961

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.37961

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.37961

United States head circumference growth reference charts: birth to 21 years

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37961

A unifying approach to the estimation of the conditional Akaike information in generalized linear mixed models

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37961

"Role of peroxisomes in human lipid metabolism and its importance for neurological development".

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37961

Natural history of rhizomelic chondrodysplasia punctata.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37961

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37961

1 reference

20 May 2018

release_jvftb2lv6vhd7md2onzeli4xxu

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/jvftb2lv6vhd7md2onzeli4xxu

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

27616591

1 reference

20 May 2018