Heterozygous RNF13 Gain-Of-Function Variants Are Associated With Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

American Journal of Human Genetics - United States
doi 10.1016/j.ajhg.2018.11.018
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

Elsevier BV

Related search

Epileptic Encephalopathy and Cerebellar Atrophy Resulting From Compound Heterozygous CACNA2D2 Variants

Case Reports in Genetics
2018English

Heterozygous RFX6 Protein Truncating Variants Are Associated With MODY With Reduced Penetrance

Nature Communications
AstronomyGeneticsMolecular BiologyBiochemistryChemistryPhysics
2017English

Genetic Variants in SCN5A Promoter Are Associated With Arrhythmia Phenotype Severity in Patients With Heterozygous Loss-Of-Function Mutation

Heart Rhythm
Cardiovascular MedicinePhysiologyCardiology
2012English

Biallelic ERBB3 Loss-Of-Function Variants Are Associated With a Novel Multisystem Syndrome Without Congenital Contracture

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2019English

Failure to Thrive and Nephrolithiasis in a Boy With Congenital Cyanotic Heart Anomaly—questions

Pediatric Nephrology
Child HealthPediatricsPerinatologyNephrology
2011English

Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay

Genetics in Medicine
MedicineGenetics
2017English

Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A

npj Genomic Medicine
GeneticsMolecular Biology
2019English

Ethylmalonic Encephalopathy Associated With Respiratory Failure

Eastern Journal of Medicine
Medicine
2016English

Biallelic VARS Variants Cause Developmental Encephalopathy With Microcephaly That Is Recapitulated in Vars Knockout Zebrafish

Nature Communications
AstronomyGeneticsMolecular BiologyBiochemistryChemistryPhysics
2019English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy