Lodder, Elisabeth M

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. [electronic resource] - American journal of human genetics 09 2016 - 704-710 p. digital

Publication Type: Journal Article

1537-6605

10.1016/j.ajhg.2016.06.025 doi


Adolescent
Animals
Bradycardia--genetics
Child
Developmental Disabilities--genetics
Female
GTP-Binding Protein beta Subunits--deficiency
Gastroesophageal Reflux--genetics
Gene Deletion
Genes, Recessive--genetics
Heart Rate--genetics
Heterozygote
Humans
Male
Muscle Hypotonia--genetics
Mutation--genetics
Mutation, Missense--genetics
Pedigree
Phenotype
Retinal Diseases--genetics
Seizures--genetics
Sinoatrial Node--physiopathology
Syndrome
Young Adult
Zebrafish--genetics
Zebrafish Proteins