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Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2017, Volume 173, Issue 3, pp. 611 - 617
Mutations in CASK cause X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, nystagmus, feeding difficulties,... 
microcephaly | gastrointestinal | FGS4 | nystagmus | gastroesophageal | X‐linked intellectual disability | CASK | FG syndrome | X-linked intellectual disability | INTERRELATION | FRMD7 | MOTOR DEVELOPMENT | GENETICS & HEREDITY | Agenesis of Corpus Callosum - diagnosis | Constipation - genetics | Guanylate Kinases - genetics | Nystagmus, Congenital - diagnosis | Humans | Child, Preschool | Male | Nystagmus, Congenital - genetics | Muscle Hypotonia - diagnosis | Mental Retardation, X-Linked - genetics | Constipation - diagnosis | Agenesis of Corpus Callosum - genetics | Mental Retardation, X-Linked - diagnosis | Facies | Female | Child | Anus, Imperforate - diagnosis | Gene Expression | Muscle Hypotonia - genetics | RNA Splice Sites | Genetic Association Studies | In Situ Hybridization, Fluorescence | Muscle Hypotonia - congenital | Neuropsychological Tests | Phenotype | Anus, Imperforate - genetics | Adolescent | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Mutation | Proteins | Genetic aspects | Genetic disorders | Seizures (Medicine) | Language skills | Nystagmus | Hypoplasia | Cerebellum | Phenotypes | Cognitive ability | Gene deletion | Kinases | Ribonucleic acid--RNA | Atrophy | Genotype & phenotype | Optic atrophy | Microencephaly | Clonal deletion | Guanylate kinase | Sensorimotor integration | Short term memory | Genotypes | Seizures | Index Medicus
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 08/2014, Volume 92, Issue 5, pp. 412 - 416
Journal Article
Scientific Reports, ISSN 2045-2322, 07/2015, Volume 5, Issue 1, pp. 12031 - 12031
Journal Article
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2015, Volume 53, Issue 3, pp. e13 - e13
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 03/2014, Volume 22, Issue 3, pp. 344 - 349
Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM... 
congenital nystagmus | foveal hypoplasia | PAX6 | autosomal dominant | DNA-BINDING | DOMAIN | DEFECTS | OPTICAL COHERENCE TOMOGRAPHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | MISSENSE MUTATIONS | REGION | ACHROMATOPSIA | GENE | GENETICS & HEREDITY | IDIOPATHIC CONGENITAL NYSTAGMUS | Paired Box Transcription Factors - genetics | Nystagmus, Congenital - diagnosis | Humans | Middle Aged | Eye Diseases, Hereditary - diagnosis | Male | Nystagmus, Congenital - genetics | Mutation, Missense | Lod Score | Genes, Dominant | Adult | Female | Eye Proteins - genetics | Child | Fovea Centralis - abnormalities | Cataract - diagnosis | Repressor Proteins - genetics | Chromosomes, Human, Pair 11 - genetics | PAX6 Transcription Factor | Homeodomain Proteins - genetics | Eye Diseases, Hereditary - genetics | Pedigree | Adolescent | Age of Onset | Cataract - genetics | Aged | Polymorphism, Single Nucleotide | Cataracts | Neurosciences | Neurobiology | Proline | Amino acids | Retina | Genomes | Single-nucleotide polymorphism | Horizontal cells | Eye movements | Amino acid substitution | Eye | Genotype & phenotype | Iris | Missense mutation | Arginine | Aniridia | Tomography | Chromosome 11 | Genetics | Deoxyribonucleic acid--DNA | Linkage analysis | Hypoplasia | Phenotypes | Congenital diseases | Medical imaging | Optic nerve | Medicine | Pax6 protein | Neurology | Hospitals | Nystagmus | Mutation | Splice junctions | Index Medicus
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 08/2013, Volume 131, Issue 8, pp. 1057 - 1066
Journal Article