Abstract
Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia. KOS is a rare, possibly underestimated condition, with fewer than 10 cases reported to date. Here we investigate the molecular cause underlying KOS.
Lingua originale | Inglese |
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pagine (da-a) | 493-499 |
Numero di pagine | 7 |
Rivista | EJMG |
Volume | 50 |
Numero di pubblicazione | 8 |
DOI | |
Stato di pubblicazione | Pubblicato - 2013 |
All Science Journal Classification (ASJC) codes
- Genetica
- Genetica (clinica)
Keywords
- Base Sequence
- Child
- Clinical genetics
- Congenital
- Developmental
- Diagnosis
- Exome
- Eye Abnormalities
- Facies
- Female
- Genome-wide
- Homozygote
- Humans
- Intellectual Disability
- Limb Deformities
- Male
- Microcephaly
- Molecular Sequence Data
- Molecular genetics
- Mutation
- Pedigree
- Ubiquitin-Protein Ligases