Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother
- 14 February 2006
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 140A (6) , 636-639
- https://doi.org/10.1002/ajmg.a.31114
Abstract
No abstract availableThis publication has 7 references indexed in Scilit:
- SOX2 anophthalmia syndromeAmerican Journal of Medical Genetics Part A, 2005
- Mutations in SOX2 cause anophthalmiaNature Genetics, 2003
- National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiologyJournal of Medical Genetics, 2002
- Germ line mosaicismHuman Genetics, 1998
- Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in SpainAmerican Journal of Medical Genetics, 1998
- Systemic anomalies in 77 patients with congenital anophthalmos or microphthalmosEye, 1996
- Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27→qter)]American Journal of Medical Genetics, 1996