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Cerebro Facio Thoracic Dysplasia

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Cerebro Facio Thoracic Dysplasia" returned 0 free, full-text review articles. First 0 results:
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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Cerebro Facio Thoracic Dysplasia" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Cerebro Facio Thoracic Dysplasia" returned 1 free, full-text research articles. First 1 results:
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Last Updated: Nov 13, 2018

Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. An efficient and cost-effective method, WES is now widely used as a diagnostic tool for identifying the molecular basis of genetic syndromes that ...

Cerebro-facio-thoracic dysplasia: expanding the phenotype.
Last Updated: Nov 24, 2016

We report a further two patients with cerebro-facio-thoracic dysplasia, a rare autosomal recessive condition with thoracic costovertebral dysplasia, developmental delay and characteristic facial features. One of our patients has the additional features of large, bilateral colobomas ...

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