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mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal marfan syndrome

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© 1994 Nature Publishing Group http://www.nature.com/naturegenetics

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Page 1: Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

© 1994 Nature Publishing Group http://www.nature.com/naturegenetics

Page 2: Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

© 1994 Nature Publishing Group http://www.nature.com/naturegenetics

Page 3: Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

© 1994 Nature Publishing Group http://www.nature.com/naturegenetics

Page 4: Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

© 1994 Nature Publishing Group http://www.nature.com/naturegenetics

Page 5: Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

© 1994 Nature Publishing Group http://www.nature.com/naturegenetics

Page 6: Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

© 1994 Nature Publishing Group http://www.nature.com/naturegenetics


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CASE REPORT / ПРИКАЗ БОЛЕСНИКА Coincidence of retinitis …srpskiarhiv.rs/global/pdf/articles-2017/maj-jun/15.pdf · 2017. 7. 9. · syndrome, ectopia lentis, Fuchs’

EvaluationofSutureless,Glueless,Flapless ...downloads.hindawi.com/journals/joph/2018/3212740.pdf · underwent SFIOL for ectopia lentis. Details obtained included preoperative uncorrected

Ectopia Lentis - Synapsesynapse.org.za/wp...5-Synapse-2013-Ectopia-Lentis.pdf · Ectopia lentis has been described in which no other ocular and systemic abnormalities have been detected,

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biosa.2017.16.2.8 APROXIMACIÓN DIAGNÓSTICA DE LOS …200.21.104.25/biosalud/downloads/Biosalud16(2)_8.pdf · Ectopia lentis Cirrosis Ptosis Litiasis biliar Endocrinológicos Hipotiroidismo

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Rare diseases and personalised medicine: state-of-the-art · 2019. 11. 20. · Type 2 Peters anomaly and ectopia lentis −The chromosome translocation t(11;18)(q23.3;q11.2)dn found

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CROSSED FUSED RENAL ECTOPIA MULTIDETECTOR … · crossed fused renal ectopia multidetector computed ... renal ectopia multidetector computed tomography ... ectopia multidetector computed

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Is an iris claw IOL a good option for correcting ...20pre-print.pdf · Ectopia lentis is subluxation of the natural crystalline lens. It can be congenital, developmental or acquired

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MANAGEMENT OF SUBLUXATED CATARACTS - CRSTEuropecrstodayeurope.com/wp-content/themes/crste/assets/downloads/0415... · Ectopia lentis signifies a displacement or malposition of the

Ectopia Lentis - Synapse · 2017. 8. 2. · Ectopia lentis has been described in which no other ocular and systemic abnormalities have been detected, or it may also occur as common

perpustakaanrsmcicendo.comperpustakaanrsmcicendo.com/wp-content/uploads/2017/05/Penatal… · Patofisiologi yang menyebabkan ectopia lentis adalah adanya s-z:u disfungsi dari serabut

When Eye Grow Up Dr Lovelace - Mercyhealth...• Simple ectopia lentis – AD, bilateral, superotemporal • Ectopia lentis et pupillae – AR, rare • bilateral displacement of pupil

CLINICAL REPORT ... · ectopia lentis or skeletal manifestations alone, may be the only pre-senting signs. Mutations in FBN1 are found in up to 95% of those meeting diagnostic criteria.3,4

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EvaluationofSutureless,Glueless,Flapless,IntrascleralFixated ... · 2019. 7. 30. · underwent SFIOL for ectopia lentis. Details obtained included preoperative uncorrected visual

Heterogeneidad clínico-genética de la luxación del cristalino. … · 2014-10-31 · Lens ectopy (ectopia lentis) is defined as the displacement or malposition of the crystalline

SURGICAL TREATMENT OF DISLOCATED LENSES*t · has reviewed the literature on ectopia lentis and classified the cases into three categories: congenital, traumatic, and secondary. The

ARACHNODACTYLY AND ECTOPIA LENTIS IN A FATHER AND … · dactyly and ectopia lentis, a ' forme fruste ' of arachnodactyly with ectopia lentis in the father being followed bythe appearance

Bilateral Simple Ectopia Lentis Associated with FBN1 Gene Mutation · 2017. 10. 11. · Bilateral Simple Ectopia Lentis Associated with FBN1 Gene Mutation 남승완1⋅송주선2⋅기창석2⋅기창원1

How far is observation allowed in patients with ectopia lentis? · 2017. 8. 26. · Ectopia lentis occurs either in isolation or as a syn-drome, including Marfan syndrome, Weill–Marchesani

Congenital Cardiology Today · higher risk of scoliosis, ectopia lentis, ascending aorta dilatation, mitral valve abnormalities, and shorter survival.1 We report on the clinical data

Open Access Corneal Microstructural Analysis in Weill ... · microspherophakia, with high lenticular myopia, and ectopia lentis [2]. The constant corneal finding is an increased central

Case Report FEVR-Like Presentation of Homocystinuria · 2019. 7. 31. · was performedto ruleout ectopia lentis. On exam, the patient appropriately reacted to light, ante-rior segment

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