Literature DB >> 3491351

Familial simple ectopia lentis. A probable autosomal recessive form.

C Ruiz, F Rivas, V M Villar-Calvo, J I Serrano-Lucas, J M Cantú.   

Abstract

All three sibs from normal and unrelated parents had congenital ectopia lentis without extraocular abnormalities. This pedigree suggests an autosomal recessive form of simple ectopia lentis.

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Mesh：

Year:  1986        PMID： 3491351     DOI： 10.3109/13816818609076113

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN： 0167-6784


  4 in total

Review 1.  Molecular pathogenesis and management strategies of ectopia lentis.

Authors:  A Chandra; D Charteris
Journal:  Eye (Lond)       Date:  2014-01-10       Impact factor: 3.775

2.  Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.

Authors:  Haiba Kaul; S Amer Riazuddin; Zaheeruddin A Qazi; Idrees A Nasir; Ahmad U Zafar; Shaheen N Khan; Tayyab Husnain; Javed Akram; J Fielding Hejtmancik; Sheikh Riazuddin
Journal:  Arch Ophthalmol       Date:  2010-08

3.  A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

Authors:  Dina Ahram; T Shawn Sato; Abdulghani Kohilan; Marwan Tayeh; Shan Chen; Suzanne Leal; Mahmoud Al-Salem; Hatem El-Shanti
Journal:  Am J Hum Genet       Date:  2009-02-05       Impact factor: 11.025

4.  Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.

Authors:  Yijing Zhou; Dongwei Guo; Qianzhong Cao; Xinyu Zhang; Guangming Jin; Danying Zheng
Journal:  Mol Med Rep       Date:  2021-02-12       Impact factor: 2.952
  4 in total

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