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.
van Bever, Yolande
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] - American journal of medical genetics. Part A Feb 2008 - 500-4 p. digital
Publication Type: Case Reports; Journal Article; Review
1552-4833
10.1002/ajmg.a.32169 doi
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
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] - American journal of medical genetics. Part A Feb 2008 - 500-4 p. digital
Publication Type: Case Reports; Journal Article; Review
1552-4833
10.1002/ajmg.a.32169 doi
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