Familial Recurrence of SOX2 Anophthalmia Syndrome: Phenotypically Normal Mother with Two Affected Daughters

The SOX2 anophthalmia syndrome is emerging as a clinically recognizable disorder that has been identified in 10–15% of individuals with bilateral anophthalmia. Extra-ocular anomalies are common. The majority of SOX2 mutations identified appear to arise de novo in probands ascertained through the pre...

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Autori principali: Schneider, Adele, Bardakjian, Tanya M., Zhou, Jie, Hughes, Nkecha, Keep, Rosanne, Dorsainville, Darnelle, Kherani, Femida, Katowitz, James, Schimmenti, Lisa A., Hummel, Marybeth, FitzPatrick, David R, Young, Terri L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2008
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3693575/
https://ncbi.nlm.nih.gov/pubmed/18831064
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32384
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