A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia

Keyphrases

• Biallelic 100%
• Phenotypic Spectrum 100%
• Gain-of-function mutation 100%
• TMCO1 100%
• Cerebrofaciothoracic Dysplasia 100%
• Intellectual Disability 60%
• Epilepsy 40%
• Clinical Features 40%
• Craniofacial Dysmorphism 40%
• Skeletal Anomalies 40%
• Israel 20%
• Arab Community 20%
• Behavior Problems 20%
• Bioinformatics Analysis 20%
• Gene mutation 20%
• Whole Exome Sequencing 20%
• Clinical Manifestations 20%
• Autosomal Recessive 20%
• Exon 6 20%
• Consanguineous Family 20%
• Affected Siblings 20%
• Vertebrae 20%
• Multiple Malformations 20%
• Stop-gain mutation 20%
• Impulsive Behavior 20%
• Facial Dysmorphism 20%
• Emotional Instability 20%

Biochemistry, Genetics and Molecular Biology

• Dysplasia 100%
• Loss of Function Mutation 100%
• Intellectual Disability 75%
• Exon 25%
• Exome Sequencing 25%
• Autosomal Recessive Inheritance 25%
• Gene Mutation 25%
• Impulsiveness 25%
• Bioinformatics 25%