(Q54765390)

3 June 2018

title

Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. (English)

1 reference

3 June 2018

main subject

Sensenbrenner syndrome

1 reference

based on heuristic

inferred from title

author

Kim M Keppler-Noreuil

4

object named as

Kim Keppler-Noreuil

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3 June 2018

Angela E Lin

1

1 reference

3 June 2018

Avram Z Traum

2

1 reference

3 June 2018

Inderneel Sahai

3

1 reference

3 June 2018

Mary K Kukolich

5

1 reference

3 June 2018

Margaret P Adam

6

1 reference

3 June 2018

Sjirk J Westra

7

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3 June 2018

Heleen H Arts

8

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3 June 2018

language of work or name

English

0 references

publication date

3 October 2013

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3 June 2018

American Journal of Medical Genetics

published in

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3 June 2018

volume

161A

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3 June 2018

issue

11

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3 June 2018

page(s)

2762-2776

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3 June 2018

Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Making sense of cilia in disease: the human ciliopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Liver and kidney disease in ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Ciliary disorder of the skeleton

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Cranioectodermal dysplasia: a probable ciliopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Phenotype of cranioectodermal dysplasia with different hair and bone abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Cranioectodermal dysplasia in sibs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Mutations in ANTXR1 cause GAPO syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36265

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36265

1 reference

3 June 2018

release_ebaxsf4axnecnpiwvvxqzt4oty

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ebaxsf4axnecnpiwvvxqzt4oty

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

3 June 2018