(Q37649513)

21 August 2017

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia (English)

1 reference

21 August 2017

0 references

5

Fowzan S Alkuraya

1 reference

21 August 2017

Anas M Alazami

1

1 reference

21 August 2017

Mohammed Zain Seidahmed

series ordinal

2

1 reference

21 August 2017

Fatema Alzahrani

series ordinal

3

1 reference

21 August 2017

Adam O Mohammed

series ordinal

4

1 reference

21 August 2017

10 December 2013

1 reference

Molecular genetics & genomic medicine

21 August 2017

1 reference

21 August 2017

2

1 reference

21 August 2017

2

1 reference

21 August 2017

103-106

1 reference

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3960051

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3960051

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3960051

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3960051

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3960051

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3960051

New syndrome of skeletal, dental and hair anomalies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3960051

Discovery of rare homozygous mutations from studies of consanguineous pedigrees

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3960051

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3960051

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3960051

Cranioectodermal dysplasia: a probable ciliopathy.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3960051

Connective tissue involvement in two patients with features of cranioectodermal dysplasia

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24689072

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MGG3.44

1 reference

21 August 2017

1 reference

21 August 2017

1 reference