Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

Keyphrases

• Intellectual Disability 100%
• Facial Gestalt 100%
• X-linked 100%
• Neurodevelopmental Disorders 100%
• Behavioral Abnormalities 66%
• Missense Variants 66%
• Congenital Anomalies 66%
• Hyperparathyroidism 66%
• Germ Cells 33%
• X Chromosome 33%
• Transcription Factor 33%
• DNA-binding Domain 33%
• Tumor Subtype 33%
• Exome Sequencing 33%
• Small Sets 33%
• Oncogenesis 33%
• Pathogenic Variants 33%
• Genome Sequencing 33%
• Molecular Characterization 33%
• Functional Significance 33%
• Cultured Cells 33%
• Transcriptional Activity 33%
• Developmental Delay 33%
• Clinical Characterization 33%
• Hypotonia 33%
• Molecular Study 33%
• Differential Expression 33%
• Multiple Genes 33%
• External Eye 33%
• Zebrafish Model 33%
• Behavioral Phenotype 33%
• Syndromic 33%
• Facial Features 33%
• Germline Variants 33%
• Truncation Variants 33%
• X-linked Intellectual Disability 33%
• Long philtrum 33%
• Eyebrow 33%
• Syndromic Intellectual Disability 33%
• Eye Abnormalities 33%
• Neuropsychological Abnormalities 33%
• Ear Anomaly 33%

Biochemistry, Genetics and Molecular Biology

• Intellectual Disability 100%
• Germline 66%
• Germ Cell 66%
• Missense 66%
• X Chromosome 33%
• Wild Type 33%
• DNA-binding Domain 33%
• Carcinogenesis 33%
• Transcription Factors 33%
• Zebra Fish 33%
• Genome Sequencing 33%
• Exome Sequencing 33%