Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature. [electronic resource]
Producer: 20080313Description: 500-4 p. digitalISSN:- 1552-4833
- DNA Mutational Analysis
- Eye Abnormalities -- complications
- Eye Proteins -- genetics
- Female
- Forkhead Transcription Factors -- genetics
- Homeodomain Proteins -- genetics
- Humans
- Infant
- Intestinal Atresia -- complications
- Microcephaly -- complications
- Mutation
- N-Myc Proto-Oncogene Protein
- Nuclear Proteins -- genetics
- Oncogene Proteins -- genetics
- PAX6 Transcription Factor
- Paired Box Transcription Factors -- genetics
- Repressor Proteins -- genetics
- Transcription Factors -- genetics
- Homeobox Protein PITX2
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Publication Type: Case Reports; Journal Article; Review
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