# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Finding useful health information on the Internet can be difficult, but we’re here to help. This page gathers quality information from trusted sources. You can learn more about the disease, visit handpicked websites, and find resources to help you in your daily life. Need more information? Click the menu on the left to find more!

 

Cerebro Facio Thoracic Dysplasia

Get Update

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:
No publications were found for this category.
Full PubMed Review articles matches at NCBI:
0 Free Review Articles

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:
No publications were found for this category.
Full PubMed Editorials matches at NCBI:
0 Free Editorials

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:
A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.
Last Updated: Jul 08, 2020

The main clinical features of cerebro-facio-thoracic dysplasia (CFTD) syndrome, which were described over four decades ago, include facial dysmorphism, multiple malformations of the vertebrae and ribs, and intellectual disability. Recently, a TMCO1 gene mutation was shown to be responsible ...

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 ...

Full PubMed Research articles matches at NCBI:
1 Free Research Articles 6 Research Articles