High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: Report of a case and further evidence for autosomal recessive inheritance-Reference-Cited by-同舟云学术

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High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: Report of a case and further evidence for autosomal recessive inheritance

Published:2000-04 Issue:2 Volume:78 Page:221-222
ISSN:1395-3907
Container-title:Acta Ophthalmologica Scandinavica
language:en
Short-container-title:

Author:

Avunduk Avni Murat,Aslan Yakup,Kapıcıoğlu Zerrin,Elmas Rüştü

Publisher

Wiley

Subject

Ophthalmology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1600-0420.2000.078002221.x/fullpdf

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Two novel variations in LRP2 cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia;Frontiers in Genetics;2023-01-27

2. Performance of Children With Donnai-Barrow Syndrome After Cochlear Implantation: A Case Report;Cureus;2022-01-09

3. Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes;Experimental Eye Research;2020-04

4. Congenital diaphragmatic hernia as a part of Nance–Horan syndrome?;European Journal of Human Genetics;2018-01-22

5. Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature;European Journal of Medical Genetics;2015-05

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