Literature DB >> 3378363

Isolated "clinical anophthalmia" in an extensively affected Arab kindred.

G Kohn1, R el Shawwa, E el Rayyes.   

Abstract

A highly inbred kinship is described, in which 19 individuals were afflicted with bilateral profound microphthalmia without associated anomalies and with normal intelligence. Autosomal recessive inheritance is demonstrated. This kindred is instructive for genetic counseling since the affected individuals always have bilateral microphthalmia in the absence of other affected organ systems.

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Year:  1988        PMID: 3378363

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


  4 in total

Review 1.  Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.

Authors:  Aman George; Tiziana Cogliati; Brian P Brooks
Journal:  Exp Eye Res       Date:  2020-02-04       Impact factor: 3.467

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.  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

4.  CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

Authors:  Udy Bar-Yosef; Izzeldin Abuelaish; Tamar Harel; Neta Hendler; Rivka Ofir; Ohad S Birk
Journal:  Hum Genet       Date:  2004-09       Impact factor: 4.132

  4 in total

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