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
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