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