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Eye development genes and known syndromes.
Slavotinek AM. Slavotinek AM. Mol Genet Metab. 2011 Dec;104(4):448-56. doi: 10.1016/j.ymgme.2011.09.029. Epub 2011 Sep 29. Mol Genet Metab. 2011. PMID: 22005280 Free PMC article. Review.
Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. ...This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal- …
Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. ...This re …
The genetics of common disorders - congenital diaphragmatic hernia.
Slavotinek AM. Slavotinek AM. Eur J Med Genet. 2014 Aug;57(8):418-23. doi: 10.1016/j.ejmg.2014.04.012. Epub 2014 May 2. Eur J Med Genet. 2014. PMID: 24793812 Review.
This review discusses the some of the more frequent, recurrent karyotypic abnormalities in which CDH is a feature, including 15q26, 8p23.1 and 4p16.3 deletions and tetrasomy 12p (Pallister-Killian syndrome), together with some of the syndromes in which CDH is a relatively …
This review discusses the some of the more frequent, recurrent karyotypic abnormalities in which CDH is a feature, including 15q26, 8p23.1 a …