Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Rainger, Joe
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. [electronic resource] - American journal of human genetics Jun 2014 - 915-23 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2014.05.005 doi
Adult
Alleles
Animals
Anophthalmos--genetics
Brain Diseases, Metabolic, Inborn--genetics
Coloboma--genetics
Corneal Opacity--genetics
Exome
Eye Proteins--genetics
Female
Gene Expression
HEK293 Cells
Heterozygote
Homozygote
Humans
Intellectual Disability--genetics
Intracellular Signaling Peptides and Proteins--genetics
Male
Mice
Microcephaly--genetics
Microphthalmos--genetics
Mutation, Missense
Pedigree
Phenotype
Protein Conformation
Signal Transduction
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. [electronic resource] - American journal of human genetics Jun 2014 - 915-23 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2014.05.005 doi
Adult
Alleles
Animals
Anophthalmos--genetics
Brain Diseases, Metabolic, Inborn--genetics
Coloboma--genetics
Corneal Opacity--genetics
Exome
Eye Proteins--genetics
Female
Gene Expression
HEK293 Cells
Heterozygote
Homozygote
Humans
Intellectual Disability--genetics
Intracellular Signaling Peptides and Proteins--genetics
Male
Mice
Microcephaly--genetics
Microphthalmos--genetics
Mutation, Missense
Pedigree
Phenotype
Protein Conformation
Signal Transduction