Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. [electronic resource]
- Genetics in medicine : official journal of the American College of Medical Genetics 07 2018
- 778-784 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1530-0366
10.1038/gim.2017.113 doi
Alleles Chromosome Mapping--methods Family Female Gene Frequency--genetics Genotype Homozygote Humans Intellectual Disability--genetics Language Development Disorders--genetics Male Membrane Proteins--genetics Microcephaly--genetics Motor Activity--genetics Mutation, Missense--genetics Nerve Tissue Proteins--genetics Pakistan Pedigree Phenotype Sequence Analysis, Protein Exome Sequencing