Faivre, Laurence <br/><br/>
Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.  [electronic resource] 

 -  American journal of medical genetics. Part A  Mar 2006 
 - 636-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter 
<br/><br/><label>ISSN: </label>1552-4825 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.31114  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Alleles<br/>Anophthalmos--pathology<br/>Base Sequence<br/>DNA Mutational Analysis<br/>Family Health<br/>Fatal Outcome<br/>Female<br/>Fetal Death<br/>Genotype<br/>HMGB Proteins--genetics<br/>Humans<br/>Infant<br/>Male<br/>Mosaicism<br/>Mothers<br/>Mutation, Missense<br/>Optic Nerve--abnormalities<br/>Pedigree<br/>Phenotype<br/>SOXB1 Transcription Factors<br/>Sex Chromosome Aberrations<br/>Syndrome<br/>Transcription Factors--genetics