Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. (Q53348076)

http://europepmc.org/abstract/MED/28422394

13 May 2018

title

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. (English)

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http://europepmc.org/abstract/MED/28422394

13 May 2018

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9

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6 June 2020

Aideen M McInerney-Leo

1

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6 June 2020

Matthew A. Brown

6

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6 June 2020

author name string

Lawrie Wheeler

2

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6 June 2020

Mhairi S Marshall

3

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6 June 2020

Lisa K Anderson

4

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6 June 2020

Andreas Zankl

5

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6 June 2020

Paul J Leo

7

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6 June 2020

Carol Wicking

8

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6 June 2020

language of work or name

English

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publication date

19 April 2017

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http://europepmc.org/abstract/MED/28422394

13 May 2018

published in

American Journal of Medical Genetics

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6 June 2020

volume

173

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6 June 2020

issue

6

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6 June 2020

page(s)

1698-1704

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In search of triallelism in Bardet-Biedl syndrome

6 June 2020

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Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

21 January 2018

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Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

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Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

21 January 2018

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BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

21 January 2018

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C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium

21 January 2018

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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

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Analysis of protein-coding genetic variation in 60,706 humans

21 January 2018

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Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

21 January 2018

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Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

21 January 2018

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Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

21 January 2018

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Digenic inheritance in medical genetics

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NEK1 mutations cause short-rib polydactyly syndrome type majewski

21 January 2018

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The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium

21 January 2018

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Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa

21 January 2018

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Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

21 January 2018

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An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

21 January 2018

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Molecular findings among patients referred for clinical whole-exome sequencing

21 January 2018

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Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

21 January 2018

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Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38215

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28422394%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

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