A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn, P
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. [electronic resource] - American journal of medical genetics. Part A Mar 2017 - 611-617 p. digital
Publication Type: Case Reports; Journal Article
1552-4833
10.1002/ajmg.a.38069 doi
Adolescent
Agenesis of Corpus Callosum--diagnosis
Anus, Imperforate--diagnosis
Child
Child, Preschool
Constipation--diagnosis
Facies
Female
Gene Expression
Genetic Association Studies
Guanylate Kinases--genetics
High-Throughput Nucleotide Sequencing
Humans
In Situ Hybridization, Fluorescence
Male
X-Linked Intellectual Disability--diagnosis
Muscle Hypotonia--congenital
Mutation
Neuropsychological Tests
Nystagmus, Congenital--diagnosis
Phenotype
Polymorphism, Single Nucleotide
RNA Splice Sites
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. [electronic resource] - American journal of medical genetics. Part A Mar 2017 - 611-617 p. digital
Publication Type: Case Reports; Journal Article
1552-4833
10.1002/ajmg.a.38069 doi
Adolescent
Agenesis of Corpus Callosum--diagnosis
Anus, Imperforate--diagnosis
Child
Child, Preschool
Constipation--diagnosis
Facies
Female
Gene Expression
Genetic Association Studies
Guanylate Kinases--genetics
High-Throughput Nucleotide Sequencing
Humans
In Situ Hybridization, Fluorescence
Male
X-Linked Intellectual Disability--diagnosis
Muscle Hypotonia--congenital
Mutation
Neuropsychological Tests
Nystagmus, Congenital--diagnosis
Phenotype
Polymorphism, Single Nucleotide
RNA Splice Sites