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Retinoblastoma with cataract and ectopia lentis

✍ Scribed by S.Jafar Hasan; Moya Brooks; Jayakrishna Ambati; Richard Kielar; Julia L Stevens

Book ID: 116589202
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 235 KB
Volume: 7
Category: Article
ISSN: 1528-3933
DOI: 10.1016/j.jaapos.2003.07.005

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📜 SIMILAR VOLUMES

PART I: RETROSPECTIVE REVIEW OF PATIENTS

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PART I: RETROSPECTIVE REVIEW OF PATIENTS

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Ectopia lentis phenotypes and the FBN1 g

Ectopia lentis phenotypes and the FBN1 gene

✍ Lesley C. Adès; Katherine J. Holman; Maggie S. Brett; Matthew J. Edwards; Bruce 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 79 KB

## Abstract Mutations of the fibrillin‐1 (__FBN1__) gene on chromosome 15 have been described in patients with classical Marfan syndrome (MFS), neonatal MFS, the “MASS” phenotype, autosomal dominant ascending aortic aneurysms, autosomal dominant ectopia lentis (EL), Marfanoid skeletal features [Mil