B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
Maroofian, Reza
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. [electronic resource] - Genome medicine 12 2017 - 118 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1756-994X
10.1186/s13073-017-0505-2 doi
Adolescent
Adult
Cell Line
Child
Female
Genes, Recessive
Genotype
Humans
Intellectual Disability--genetics
Male
Mutation
N-Acetylgalactosaminyltransferases--genetics
Pedigree
Phenotype
Walker-Warburg Syndrome--genetics
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. [electronic resource] - Genome medicine 12 2017 - 118 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1756-994X
10.1186/s13073-017-0505-2 doi
Adolescent
Adult
Cell Line
Child
Female
Genes, Recessive
Genotype
Humans
Intellectual Disability--genetics
Male
Mutation
N-Acetylgalactosaminyltransferases--genetics
Pedigree
Phenotype
Walker-Warburg Syndrome--genetics