(Q57915585)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24039075%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome (English)

1 reference

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21 February 2020

1 reference

1 reference

6

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21 February 2020

author name string

Abdulrahman AlSwaid

2

1 reference

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21 February 2020

Talaat Youssef

3

1 reference

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21 February 2020

Manaf Al Azzawi

4

1 reference

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21 February 2020

Andrew Crosby

5

1 reference

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21 February 2020

Farouq K Ababneh

1

1 reference

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21 February 2020

language of work or name

English

0 references

publication date

16 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24039075%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

21 February 2020

published in

1 reference

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21 February 2020

volume

161A

1 reference

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21 February 2020

issue

12

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21 February 2020

page(s)

3155-3160

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24039075%20AND%20SRC:MED&resulttype=core&format=json

Further delineation of Raine syndrome.

21 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

Intracranial calcification in Raine syndrome: radiological pathological correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

New distinct lethal osteosclerotic bone dysplasia (Raine syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

A new lethal sclerosing bone dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

Raine syndrome: expanding the radiological spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

Osteopetrosis: brain ultrasound and computed tomography findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

Secreted kinase phosphorylates extracellular proteins that regulate biomineralization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36160

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36160

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24039075%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference