Literature DB >> 6549566

Waardenburg's recessive anophthalmia syndrome.

E I Traboulsi, A M Nasr, S D Fahd, N M Jabbour, V M Der Kaloustian.   

Abstract

A family with a rare form of autosomal recessive anophthalmia, syndactyly and multiple congenital deformities is reported. The authors propose that this be recognized as a well defined autosomal recessive syndrome.

Entities:  

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Year:  1984        PMID： 6549566     DOI： 10.3109/13816818409009888

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


  4 in total

1.  Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

Authors:  Hana Abouzeid; Gaëlle Boisset; Tatiana Favez; Mohamed Youssef; Iman Marzouk; Nihal Shakankiry; Nader Bayoumi; Patrick Descombes; Céline Agosti; Francis L Munier; Daniel F Schorderet
Journal:  Am J Hum Genet       Date:  2010-12-30       Impact factor: 11.025

2.  Cryptorchidism, micropenis and clinical anophthalmia epilepsy in a retarded boy.

Authors:  K Izumiya; T Nakada
Journal:  Int Urol Nephrol       Date:  1996       Impact factor: 2.370

3.  Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

Authors:  Joe Rainger; Ellen van Beusekom; Jacqueline K Ramsay; Lisa McKie; Lihadh Al-Gazali; Rosanna Pallotta; Anita Saponari; Peter Branney; Malcolm Fisher; Harris Morrison; Louise Bicknell; Philippe Gautier; Paul Perry; Kishan Sokhi; David Sexton; Tanya M Bardakjian; Adele S Schneider; Nursel Elcioglu; Ferda Ozkinay; Rainer Koenig; Andre Mégarbané; C Nur Semerci; Ayesha Khan; Saemah Zafar; Raoul Hennekam; Sérgio B Sousa; Lina Ramos; Livia Garavelli; Andrea Superti Furga; Anita Wischmeijer; Ian J Jackson; Gabriele Gillessen-Kaesbach; Han G Brunner; Dagmar Wieczorek; Hans van Bokhoven; David R Fitzpatrick
Journal:  PLoS Genet       Date:  2011-07-07       Impact factor: 5.917

4.  Lenz microphthalmic syndrome in an Indian patient.

Authors:  Arvind Gupta; Renuka Srinivasan; Datta G Pandian; K Ramesh Babu
Journal:  Indian J Ophthalmol       Date:  2007 Nov-Dec       Impact factor: 1.848
  4 in total

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