(Q42562724)

2 November 2017

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? (English)

1 reference

2 November 2017

1 reference

phenotypic heterogeneity

1 reference

5

Fowzan S Alkuraya

1 reference

2 November 2017

1

Ranad Shaheen

1 reference

2 November 2017

Mohammed Al-Owain

2

1 reference

2 November 2017

Nadia Sakati

series ordinal

3

1 reference

2 November 2017

Zayed S Alzayed

series ordinal

4

1 reference

2 November 2017

language of work or name

English

0 references

publication date

1 August 2010

1 reference

American Journal of Human Genetics

2 November 2017

1 reference

2 November 2017

87

1 reference

2 November 2017

306-7; author reply 308

1 reference

2 November 2017

2

1 reference

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta

2 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917708

Homozygosity mapping: one more tool in the clinical geneticist's toolbox

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917708

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917708

Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917708

Developmental regulation of FKBP65. An ER-localized extracellular matrix binding-protein

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917708

Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917708

Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome).

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917708

Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV

28 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20696291

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Cyclic pamidronate treatment in Bruck syndrome: proposal of a new modality of treatment

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20696291

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.05.020

1 reference

release_e3knnex2bzamhj7dkhsi5wbjwy

2 November 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/e3knnex2bzamhj7dkhsi5wbjwy

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

2 November 2017

1 reference