(Q24655593)

English

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

scientific article

In more languages

default values for all languages

No label defined

No description defined

Statements

scholarly article

0 references

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

0 references

1 reference

based on heuristic

inferred from title

object named as

R Hsu

2

0 references

1 reference

ORCID Public Data File 2021

author name string

M A Simpson

1

0 references

L S Keir

3

0 references

J Hao

4

0 references

G Sivapalan

5

0 references

L M Ernst

6

0 references

E H Zackai

7

0 references

L I Al-Gazali

8

0 references

G Hulskamp

9

0 references

H M Kingston

10

0 references

T E Prescott

11

0 references

A Ion

12

0 references

M A Patton

13

0 references

V Murday

14

0 references

A George

15

0 references

A H Crosby

16

0 references

language of work or name

0 references

publication date

November 2007

0 references

American Journal of Human Genetics

0 references

81

0 references

5

0 references

906-12

0 references

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

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24655593&oldid=1842885186"