Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders. [electronic resource]
- American journal of medical genetics. Part A 12 2018
- 2668-2676 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
1552-4833
10.1002/ajmg.a.40666 doi
Alleles Alternative Splicing Child, Preschool Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Male Mutation Nerve Tissue Proteins--genetics Neurodevelopmental Disorders--diagnosis Pedigree Phenotype