Li, Ying

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