De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay. [electronic resource]
Producer: 20110824Description: 615-8 p. digitalISSN:- 1708-8283
- Ataxia Telangiectasia Mutated Proteins
- Blepharophimosis -- complications
- Blepharoptosis
- Cell Cycle Proteins -- genetics
- Chromosomes, Human, Pair 3 -- genetics
- Dandy-Walker Syndrome -- complications
- Developmental Disabilities -- complications
- Forkhead Box Protein L2
- Forkhead Transcription Factors -- genetics
- Humans
- Infant
- Intellectual Disability -- genetics
- Magnetic Resonance Imaging
- Male
- Nerve Tissue Proteins -- genetics
- Protein Serine-Threonine Kinases -- genetics
- Sequence Deletion -- genetics
- Transcription Factors -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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