Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia (Q34055718)

30 July 2017

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Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia (English)

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5

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James R Lupski

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Richard A Gibbs

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Donna M Muzny

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Shalini N Jhangiani

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2

Ender Karaca

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B Bilge Geckinli

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1

Davut Pehlivan

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Hatip Aydin

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Christine R Beck

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4

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Ali Karaman

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8

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Centers for Mendelian Genomics

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10

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15 January 2014

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European Journal of Human Genetics

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22

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1145-1148

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https://scigraph.springernature.com/pub.10.1038/ejhg.2013.291

30 July 2017

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cites work

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135405

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135405

Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135405

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135405

Cerebrofaciothoracic dysplasia: a new family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135405

Cerebro-Facio-Thoracic Dysplasia: Report of Three Cases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135405

Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome).

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.291

A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.291

Ophthalmologic findings in cerebrofaciothoracic dysplasia

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4135405

[Cerebrofaciothoracic dysplasia (Pascual-Castroviejo type I syndrome): presentation of two new patients]

28 October 2018

1 reference

12 December 2020

Growth hormone deficiency in a case of cerebrofaciothoracic syndrome in one of two affected siblings

1 reference

12 December 2020

An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation

1 reference

12 December 2020

Cerebrofaciothoracic syndrome

1 reference

12 December 2020

Cerebro-facio-thoracic dysplasia: expanding the phenotype

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2013.291

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30 July 2017

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30 July 2017

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