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Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome

  • Published:2011-10 Issue:5 Volume:7 Page:569-573
  • ISSN:1477-5131
  • Container-title:Journal of Pediatric Urology
  • language:en
  • Short-container-title:Journal of Pediatric Urology

Author:

Al Badr Wisam,Al Bader Suha,Otto Edgar,Hildebrandt Friedhelm,Ackley Todd,Peng Weiping,Xu Jishu,Li Jun,Owens Kailey M.,Bloom David,Innis Jeffrey W.

Publisher

Elsevier BV

Subject

Urology,Pediatrics, Perinatology, and Child Health

Reference13 articles.

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2. Orthostatic intolerance and the headache patient;Mack;Semin Pediatr Neurol,2010

3. Duplication 16p11.2 in a child with infantile seizure disorder;Bedoyan;Am J Med Genet A,2010

4. A systematic approach to mapping recessive disease genes in individuals from outbred populations;Hildebrandt;PLoS Genet,2009

5. Fast and accurate short read alignment with Burrows-Wheeler transform;Li;Bioinformatics,2009

Cited by 23 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. Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder;Frontiers in Genetics;2022-06-23

2. Urofacial (ochoa) syndrome: A literature review;Journal of Pediatric Urology;2021-04

3. Heparanase 2 and Urofacial Syndrome, a Genetic Neuropathy;Advances in Experimental Medicine and Biology;2020

4. An Overview of the Structure, Mechanism and Specificity of Human Heparanase;Advances in Experimental Medicine and Biology;2020

5. Urofacial Syndrome;Atlas of Genetic Diagnosis and Counseling;2017
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