(Q24655593)

English

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development

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scholarly article

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Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development (English)

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1 reference

based on heuristic

inferred from title

object named as

R Hsu

2

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1 reference

ORCID Public Data File 2021

author name string

M A Simpson

1

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L S Keir

3

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J Hao

4

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G Sivapalan

5

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L M Ernst

6

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E H Zackai

7

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L I Al-Gazali

8

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G Hulskamp

9

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H M Kingston

10

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T E Prescott

11

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A Ion

12

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M A Patton

13

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V Murday

14

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A George

15

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A H Crosby

16

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language of work or name

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publication date

November 2007

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American Journal of Human Genetics

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81

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906-12

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5

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FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265657

7 April 2017

Multiple sequence alignment with the Clustal series of programs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265657

7 April 2017

Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265657

7 April 2017

Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265657

7 April 2017

Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265657

28 September 2017

Raine dysplasia: a Brazilian case with a mild radiological involvement.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265657

30 May 2018

A new lethal sclerosing bone dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265657

30 May 2018

New distinct lethal osteosclerotic bone dysplasia (Raine syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265657

30 May 2018

Osteopetrosis: brain ultrasound and computed tomography findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265657

30 May 2018

Automated splicing mutation analysis by information theory.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265657

28 November 2018

Further delineation of Raine syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2265657

28 November 2018

Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17924334

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intracranial calcification in Raine syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17924334

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/17924334

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

https://pubmed.ncbi.nlm.nih.gov/17924334

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Raine syndrome: report of a case with hand and foot anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/17924334

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_otfn6dcmkfbdbg7hu72fnzhmey

1 reference

https://api.fatcat.wiki/v0/release/otfn6dcmkfbdbg7hu72fnzhmey

24 November 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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