Mutations ofSGO2andCLDN14collectively cause coincidental Perrault syndrome-Reference-Cited by-同舟云学术

Mutations ofSGO2andCLDN14collectively cause coincidental Perrault syndrome

Published:2016-11-16 Issue:2 Volume:91 Page:328-332
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Faridi R.¹²,Rehman A.U.¹,Morell R.J.³,Friedman P.L.⁴,Demain L.⁵^ORCID,Zahra S.²,Khan A.A.²,Tohlob D.⁵⁶,Assir M.Z.⁷⁸,Beaman G.⁵,Khan S.N.²,Newman W.G.⁵,Riazuddin S.⁸⁹,Friedman T.B.¹

Affiliation:

1. Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders; National Institutes of Health; Bethesda MD USA

2. National Centre of Excellence in Molecular Biology; University of the Punjab; Lahore Pakistan

3. Genomics and Computational Biology Core; NIDCD, NIH; Bethesda MD USA

4. Internal Medicine Consult Service; Clinical Center, National Institutes of Health; Bethesda MD USA

5. Manchester Centre for Genomic Medicine; University of Manchester and Central Manchester University Hospitals, NHS Foundation Trust; Manchester UK

6. Clinical Pathology Department, Faculty of Medicine; Mansoura University; Mansoura Egypt

7. Allama Iqbal Medical College; University of Health Sciences; Lahore Pakistan

8. Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan; Institute of Medical Sciences; Islamabad Pakistan

9. Allama Iqbal Medical Research Centre; Jinnah Hospital Complex; Lahore Pakistan

Funder

National Institute on Deafness and Other Communication Disorders

Higher Education Commission, Pakistan

Action on Hearing Loss

National Institutes of Health

National Centre of Excellence in Molecular Biology at the University of the Punjab

National Health Service Research Ethics Committee

University of Manchester

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12867/fullpdf

Reference23 articles.

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3. Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder;Agrawala;J Pediatr Endocrinol Metab,2015

4. Perrault syndrome with Marfanoid habitus in two siblings;Jacob;J Pediatr Adolesc Gynecol,2007

5. Peroxisomal D-bifunctional protein deficiency: first case reports from Slovakia;Konkolova;Gene,2015

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