Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

Ansar, Muhammad

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