TY  - GEN
AU  - Faivre,Laurence
AU  - Williamson,Kathleen A
AU  - Faber,Valérie
AU  - Laurent,Nicole
AU  - Grimaldi,Marianne
AU  - Thauvin-Robinet,Christel
AU  - Durand,Christine
AU  - Mugneret,Francine
AU  - Gouyon,Jean-Bernard
AU  - Bron,Alain
AU  - Huet,Frédéric
AU  - Hayward,Caroline
AU  - Heyningen,Veronica van
AU  - Fitzpatrick,David R
TI  - Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother
SN  - 1552-4825
PY  - 2006///0530
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Alleles
KW  - Anophthalmos
KW  - pathology
KW  - Base Sequence
KW  - DNA Mutational Analysis
KW  - Family Health
KW  - Fatal Outcome
KW  - Female
KW  - Fetal Death
KW  - Genotype
KW  - HMGB Proteins
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mosaicism
KW  - Mothers
KW  - Mutation, Missense
KW  - Optic Nerve
KW  - abnormalities
KW  - Pedigree
KW  - Phenotype
KW  - SOXB1 Transcription Factors
KW  - Sex Chromosome Aberrations
KW  - Syndrome
KW  - Transcription Factors
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1002/ajmg.a.31114
ER  -