(Q41936311)

English

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

scientific article published on 23 July 2010

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scholarly article

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Europe PubMed Central

14 October 2017

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation (English)

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Europe PubMed Central

14 October 2017

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based on heuristic

inferred from title

3

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Europe PubMed Central

14 October 2017

author name string

Melanie Fradin

1

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Europe PubMed Central

14 October 2017

C Stoetzel

2

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Europe PubMed Central

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M Koob

4

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Europe PubMed Central

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D Christmann

5

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Europe PubMed Central

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C Debry

6

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Europe PubMed Central

14 October 2017

M Kohler

7

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Europe PubMed Central

14 October 2017

M Isnard

8

1 reference

Europe PubMed Central

14 October 2017

D Astruc

9

1 reference

Europe PubMed Central

14 October 2017

P Desprez

10

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Europe PubMed Central

14 October 2017

C Zorres

11

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Europe PubMed Central

14 October 2017

E Flori

12

1 reference

Europe PubMed Central

14 October 2017

H Dollfus

13

1 reference

Europe PubMed Central

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B Doray

14

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Europe PubMed Central

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publication date

23 July 2010

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Europe PubMed Central

14 October 2017

Clinical Genetics

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Europe PubMed Central

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80

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177-183

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2

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NCBI Reference Sequences: current status, policy and new initiatives

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

eggNOG v2.0: extending the evolutionary genealogy of genes with enhanced non-supervised orthologous groups, species and functional annotations

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

The Universal Protein Resource (UniProt) 2009

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

A Simple, Fast, and Accurate Algorithm to Estimate Large Phylogenies by Maximum Likelihood

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

Interactive Tree Of Life (iTOL): an online tool for phylogenetic tree display and annotation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

Human non-synonymous SNPs: server and survey

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

Further delineation of Raine syndrome.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

New distinct lethal osteosclerotic bone dysplasia (Raine syndrome)

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

A new lethal sclerosing bone dysplasia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

Osteopetrosis: brain ultrasound and computed tomography findings

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

AQUA: automated quality improvement for multiple sequence alignments

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01516.X

21 January 2018

Identifiers

10.1111/J.1399-0004.2010.01516.X

1 reference

Europe PubMed Central

14 October 2017

1 reference

Europe PubMed Central

14 October 2017

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