@article{0574f8baf39a44fc937c6b1fe284bfde,
title = "Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother",
keywords = "Abnormalities, Multiple, Alleles, Anophthalmos, Base Sequence, DNA Mutational Analysis, Family Health, Fatal Outcome, Female, Fetal Death, Genotype, HMGB Proteins, Humans, Infant, Male, Mosaicism, Mothers, Mutation, Missense, Optic Nerve, Pedigree, Phenotype, SOXB1 Transcription Factors, Sex Chromosome Aberrations, Syndrome, Transcription Factors",
author = "Laurence Faivre and Williamson, {Kathleen A} and Val{\'e}rie Faber and Nicole Laurent and Marianne Grimaldi and Christel Thauvin-Robinet and Christine Durand and Francine Mugneret and Jean-Bernard Gouyon and Alain Bron and Fr{\'e}d{\'e}ric Huet and Caroline Hayward and Heyningen, {Veronica van} and Fitzpatrick, {David R}",
year = "2006",
month = mar,
day = "15",
doi = "10.1002/ajmg.a.31114",
language = "English",
volume = "140",
pages = "636--9",
journal = "The American Journal of Medical Genetics - Part A (AJMG)",
issn = "1552-4825",
publisher = "Wiley",
number = "6",
}