Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.
Faivre
Laurence
L
Centre de Génétique, Hôpital d'Enfants, Dijon, France. laurence.faivre@chu-dijon.fr
Williamson
Kathleen A
KA
Faber
Valérie
V
Laurent
Nicole
N
Grimaldi
Marianne
M
Thauvin-Robinet
Christel
C
Durand
Christine
C
Mugneret
Francine
F
Gouyon
Jean-Bernard
JB
Bron
Alain
A
Huet
Frédéric
F
Hayward
Caroline
C
Heyningen
Veronica van
Vv
Fitzpatrick
David R
DR
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000483:Alleles; D000853:Anophthalmos / Q000473:pathology*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D005838:Genotype; D024002:HMGB Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D009035:Mothers; D020125:Mutation, Missense; D009900:Optic Nerve / Q000002:abnormalities; D010375:Pedigree; D010641:Phenotype; D055748:SOXB1 Transcription Factors; D012729:Sex Chromosome Aberrations; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
D024002:HMGB Proteins; C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors; D014157:Transcription Factors