No abstract available
MeSH terms
-
Abnormalities, Multiple / genetics
-
Abnormalities, Multiple / pathology*
-
Child
-
Chromosome Duplication / genetics*
-
Chromosomes, Human, Pair 11 / genetics*
-
Developmental Disabilities / genetics
-
Developmental Disabilities / pathology
-
Eye Abnormalities / genetics
-
Eye Abnormalities / pathology
-
Eye Proteins / genetics*
-
Female
-
Homeodomain Proteins / genetics*
-
Humans
-
Microcephaly / genetics
-
Microcephaly / pathology
-
Muscle Hypotonia / genetics
-
Muscle Hypotonia / pathology
-
PAX6 Transcription Factor
-
Paired Box Transcription Factors / genetics*
-
Phenotype*
-
Repressor Proteins / genetics*
-
Seizures / genetics
-
Seizures / pathology
Substances
-
Eye Proteins
-
Homeodomain Proteins
-
PAX6 Transcription Factor
-
PAX6 protein, human
-
Paired Box Transcription Factors
-
Repressor Proteins