Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused byPAPSS2Mutations-Reference-Cited by-同舟云学术

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused byPAPSS2Mutations

Published:2013-07-26 Issue:10 Volume:34 Page:1381-1386
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Iida Aritoshi¹,Simsek-Kiper Pelin Özlem²,Mizumoto Shuji³,Hoshino Touma³,Elcioglu Nursel⁴,Horemuzova Eva⁵,Geiberger Stefan⁶,Yesil Gozde⁷,Kayserili Hülya⁸,Utine Gülen Eda²,Boduroglu Koray²,Watanabe Shigehiko⁹,Ohashi Hirofumi⁹,Alanay Yasemin¹⁰,Sugahara Kazuyuki³,Nishimura Gen¹¹,Ikegawa Shiro¹

Affiliation:

1. Laboratory for Bone and Joint Diseases; Center for Integrative Medical Science, RIKEN; Tokyo; Japan

2. Clinical Genetics Unit; Ihsan Dogramaci Children's Hospital; Hacettepe University; Ankara; Turkey

3. Laboratory of Proteoglycan Signaling and Therapeutics; Graduate School of Life Science, Hokkaido University; Sapporo; Japan

4. Department of Pediatric Genetics; Marmara University Pendik Hospital; Istanbul; Turkey

5. Department of Women's and Children's Health; Karolinska Institutet, & Paediatric Endocrinology Unit; Karolinska University Hospital; Stockholm; Sweden

6. Department of Paediatric Radiology; Karolinska University Hospital Solna; Stockholm; Sweden

7. Bezmialem Vakif University; Faculty of Medicine; Department of Medical Genetics; Fatih; Istanbul; Turkey

8. Medical Genetics Department; Istanbul Medical Faculty; Istanbul University; Istanbul; Turkey

9. Division of Medical Genetics; Saitama Children's Medical Center; Saitama; Japan

10. Department of Pediatrics; Acibadem University School of Medicine; Istanbul; Turkey

11. Department of Pediatric Imaging; Tokyo Metropolitan Children's Medical Center; Fuchu; Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22377/fullpdf

Reference26 articles.

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2. TRPV4-pathy, a novel channelopathy affecting diverse systems;Dai;J Hum Genet,2010

3. Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse;Faiyaz ul Haque;Nat Genet,1998

4. Characterization and expression of human bifunctional 3′-phosphoadenosine 5′-phosphosulphate synthase isoforms;Fuda;Biochem J,2002

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