Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay. [electronic resource]
Producer: 20120601Description: 48-52 p. digitalISSN:- 1473-5717
- Blepharophimosis -- genetics
- Cerebral Palsy
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 3 -- genetics
- Developmental Disabilities -- genetics
- Eyelids -- abnormalities
- Facies
- Forkhead Box Protein L2
- Forkhead Transcription Factors -- genetics
- Genes, Dominant
- Genitalia, Male -- abnormalities
- Humans
- Language Development Disorders -- genetics
- Male
- Skin Abnormalities -- genetics
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Publication Type: Case Reports; Journal Article
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