Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. [electronic resource]
Producer: 20060530Description: 636-9 p. digitalISSN:- 1552-4825
- Abnormalities, Multiple -- genetics
- Alleles
- Anophthalmos -- pathology
- Base Sequence
- DNA Mutational Analysis
- Family Health
- Fatal Outcome
- Female
- Fetal Death
- Genotype
- HMGB Proteins -- genetics
- Humans
- Infant
- Male
- Mosaicism
- Mothers
- Mutation, Missense
- Optic Nerve -- abnormalities
- Pedigree
- Phenotype
- SOXB1 Transcription Factors
- Sex Chromosome Aberrations
- Syndrome
- Transcription Factors -- genetics
No physical items for this record
Publication Type: Case Reports; Letter
There are no comments on this title.
Log in to your account to post a comment.