Literature DB >> 8209881

Autosomal recessive colobomatous microphthalmia.

J Zlotogora1, C Legum, J Raz, S Merin, D BenEzra.   

Abstract

Colobomatous microphthalmia was studied in multiple relatives of 5 families. In these families, the disorder was an autosomal recessive trait as opposed to the usual autosomal dominant form of the disorder. A relatively high incidence of this recessive allele is found in the Iranian Jewish community.

Entities:  

Mesh：

Year:  1994        PMID： 8209881     DOI： 10.1002/ajmg.1320490302

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

1.  Unilateral Autosomal Recessive Anophthalmia in a Patient with Cystic Craniopharyngioma.

Authors:  Amandeep Kumar; Ankit Bansal; Ajay Garg; Bhawani S Sharma
Journal:  Neuroophthalmology       Date:  2014-04-25

2.  Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.

Authors:  D A Bessant; K Anwar; S Khaliq; A Hameed; M Ismail; A M Payne; S Q Mehdi; S S Bhattacharya
Journal:  Br J Ophthalmol       Date:  1999-08       Impact factor: 4.638

3.  The familial contribution to non-syndromic ocular coloboma in south India.

Authors:  S J Hornby; L Dandona; R B Jones; H Stewart; C E Gilbert
Journal:  Br J Ophthalmol       Date:  2003-03       Impact factor: 4.638

4.  A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

Authors:  L Morlé; M Bozon; J C Zech; N Alloisio; A Raas-Rothschild; C Philippe; J C Lambert; J Godet; H Plauchu; P Edery
Journal:  Am J Hum Genet       Date:  2000-10-13       Impact factor: 11.025

5.  aldh7a1 regulates eye and limb development in zebrafish.

Authors:  Holly E Babcock; Sunit Dutta; Ramakrishna P Alur; Chad Brocker; Vasilis Vasiliou; Susan Vitale; Mones Abu-Asab; Brian P Brooks
Journal:  PLoS One       Date:  2014-07-08       Impact factor: 3.240
  5 in total

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