Aiko Iwata-Otsubo Alyssa L Ritter Brooke Weckselbatt Nicole R Ryan David Burgess Laura K Conlin Kosuke Izumi
10.1002/ajmg.a.38517
Am J Med Genet A
2018 Jan;176(1):241-245.
snp array developmental delay region of homozygosity
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/29130632/
Developmental Disabilities / diagnosis Developmental Disabilities / genetics Genetic Association Studies Guanine Nucleotide Exchange Factors / genetics Mutation Nerve Tissue Proteins / genetics
Developmental Disabilities / diagnosis Developmental Disabilities / genetics Genetic Association Studies Guanine Nucleotide Exchange Factors / genetics Mutation Nerve Tissue Proteins / genetics Case Reports Alleles Child Child, Preschool Facies Female Genotype Humans Male Phenotype Polymorphism, Single Nucleotide Sequence Deletion DOCK3 protein, human Guanine Nucleotide Exchange Factors Nerve Tissue Proteins
PMC5726891
29130632
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia
2018