ectopia lentis/arginină

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A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.

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OBJECTIVE To identify the genetic defect in an autosomal dominant ectopia lentis (EL) family having 27 affected members in four generations. METHODS Detailed family history and clinical data were recorded for 48 family members including 24 persons with isolated ectopia lentis. Candidate gene regions

Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis.

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OBJECTIVE To identify the genetic defect in a Chinese family with autosomal dominant inherited ectopia lentis. METHODS twenty-one family members, including seven patients underwent general physical and fully ophthalmic examinations. Genomic DNA was extracted from leukocytes of venous blood of these

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.

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BACKGROUND Marfan syndrome (MFS), inherited as an autosomal dominant trait, typically affects the cardiovascular, skeletal, and ocular systems. Ectopia lentis (EL) is a clinical manifestation of MFS, with stretching or disruption of the lenticular zonular filaments, leading to displacement of the

A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.

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OBJECTIVE To identify the genetic defect in an autosomal dominant isolated ectopia lentis (EL) family. METHODS Detailed family history and clinical data were collected from the family including sixteen patients with isolated EL. Blood samples of nine patients, one normal person and two unknown

Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis.

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OBJECTIVE To examine the fibrillin-1 (FBN1) gene for mutations in members of a Chinese family with isolated ectopia lentis. METHODS Clinically relevant laboratory investigation. METHODS Family members underwent clinical examinations. Genomic DNA was extracted from leukocytes of peripheral blood from

A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family.

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OBJECTIVE Aniridia is phenotyically and genetically heterogeneous. This study is to summarize the phenotypes and identify the genetic defect responsible for aniridia and congenital progressive cataract in a three generation Chinese family. METHODS A detailed family history and clinical data from

An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.

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We present here a family with a clinical phenotype resembling Marfan syndrome (MFS), and displaying joint contracture and episodes of knee joint effusions, but lacking the cardiovascular features of the syndrome. The phenotype of this family represents a unique mixture of connective tissue symptoms,

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