Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.

Barrie, Elizabeth S

Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. [electronic resource] - European journal of medical genetics Mar 2020 - 103735 p. digital

Publication Type: Case Reports; Journal Article

1878-0849

10.1016/j.ejmg.2019.103735 doi


Adolescent
Child
Codon, Nonsense
Epilepsy--genetics
Female
Frameshift Mutation
Genetic Association Studies
Genotype
Guanine Nucleotide Exchange Factors--genetics
Heredity
Heterozygote
Humans
Intellectual Disability--diagnostic imaging
Male
Mosaicism
Muscle Hypotonia--genetics
Mutation, Missense
Pedigree
Phenotype
Speech-Language Pathology
Exome Sequencing