(Q56266812)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604815%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

CRTAP mutation in a patient with Cole-Carpenter syndrome (English)

1 reference

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28 February 2020

1 reference

Cole-Carpenter syndrome

1 reference

based on heuristic

inferred from title

author

Meena Balasubramanian

1

1 reference

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28 February 2020

Rebecca C Pollitt

2

1 reference

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28 February 2020

Amaka C. Offiah

8

1 reference

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28 February 2020

author name string

Kate E Chandler

3

1 reference

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28 February 2020

M Z Mughal

4

1 reference

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28 February 2020

Michael J Parker

5

1 reference

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28 February 2020

Ann Dalton

6

1 reference

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28 February 2020

Paul Arundel

7

1 reference

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28 February 2020

Nicholas J Bishop

9

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28 February 2020

language of work or name

English

0 references

publication date

21 January 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604815%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

28 February 2020

number of pages

5

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

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28 February 2020

volume

167A

1 reference

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28 February 2020

issue

3

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28 February 2020

page(s)

587-591

1 reference

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New case of Cole-Carpenter syndrome.

28 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36916

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36916

Generalized connective tissue disease in Crtap-/- mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36916

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36916

Characterising and treating osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36916

Defective collagen fibril formation and mineralization in osteogenesis imperfecta with congenital joint contractures (Bruck syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36916

Osteogenesis imperfecta: translation of mutation to phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36916

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36916

Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36916

Caffey disease: an unlikely collagenopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36916

New genes in bone development: what's new in osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36916

Genetic heterogeneity in osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36916

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36916

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36916

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36916

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36916

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25604815%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference