Expanding the genotypic spectrum of Perrault syndrome

Author:

Demain L.A.M.1ORCID,Urquhart J.E.1,O'Sullivan J.1,Williams S.G.1,Bhaskar S.S.1,Jenkinson E.M.1,Lourenco C.M.2,Heiberg A.3,Pearce S.H.4,Shalev S.A.56,Yue W.W.7,Mackinnon S.7,Munro K.J.89,Newbury-Ecob R.10,Becker K.11,Kim M.J.12,O' Keefe R.T.13,Newman W.G.19

Affiliation:

1. Manchester Centre for Genomic Medicine, Institute of Human Development; University of Manchester; Manchester UK

2. Clinics Hospital of Ribeirao Preto; University of São Paulo; São Paulo Brazil

3. Department of Medical Genetics; Oslo University Hospital; Oslo Norway

4. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; and Endocrine Department; Newcastle upon Tyne Hospitals; Newcastle upon Tyne UK

5. The Institute for Genetics; Ha'Emek Medical Centre; Afula Israel

6. Rapapport faculty of Medicine; Technion Haifa; Haifa Israel

7. Structural Genomics Consortium, Nuffield Department of Clinical Medicine; University of Oxford; Oxford UK

8. School of Psychological Sciences; University of Manchester; Manchester UK

9. Central Manchester University Hospitals NHS Foundation Trust; Manchester Academic Health Science Centre; Manchester UK

10. Clinical Genetics, St Michaels Hospital, Bristol Genetics Laboratory Pathology Sciences; Southmead Hospital Bristol; Bristol UK

11. Medical Genetics Center; Munich Germany

12. Department of Obstetrics and Gynecology; The Catholic University of Korea; Seoul Korea

13. Faculty of Life Sciences; University of Manchester; Manchester UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference44 articles.

1. ® http://omim.org/

2. The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness;Pallister;Am J Med Genet,1979

3. Perrault syndrome - a rare case report;Geethalakshmi;J Clin Diagn Res,2015

4. Neurologic anomalies of Perrault syndrome;Gottschalk;Am J Med Genet,1996

5. Genotype and phenotype heterogeneity in Perrault syndrome;Kim;J Pediatr Adolesc Gynecol,2013

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