Literature DB >> 310371

Isolated congenital ectopia lentis with autosomal dominant inheritance.

B M Jaureguy, J G Hall.   

Abstract

Although autosomal dominant inheritance of isolated ectopia lentis has been described, the literature contains old and unclear reports concerning the evaluation of skeletal or metabolic abnormalities. We report a family in which congenital isolated ectopia lentis occurs in five members of two generations in a pattern consistent with autosomal dominant inheritance.

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Year:  1979        PMID: 310371     DOI: 10.1111/j.1399-0004.1979.tb02033.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  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

2.  Ectopia lentis et pupillae: the genetic aspects and differential diagnosis.

Authors:  A Colley; I C Lloyd; A Ridgway; D Donnai
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

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.  Software and database for the analysis of mutations in the human FBN1 gene.

Authors:  G Collod; C Béroud; T Soussi; C Junien; C Boileau
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

  4 in total

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