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
ISSN: 1537-6605
Standard No.: 10.1016/j.ajhg.2016.06.025 doi
Subjects--Topical Terms: 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