Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene.
Zenteno
J C
JC
Gascon-Guzman
G
G
Tovilla-Canales
J L
JL
D000015:Abnormalities, Multiple / Q000235:genetics*; D000853:Anophthalmos / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D005260:Female; D024002:HMGB Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008957:Models, Genetic; D008969:Molecular Sequence Data; D055748:SOXB1 Transcription Factors; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
D024002:HMGB Proteins; C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors; D014157:Transcription Factors