作者： Ariana Kariminejad ; Siavash Ghaderi-Sohi…

关键词：Lethal multiple pterygium syndrome ; Akinesia ; Arthrogryposis ; Foetal hydrops ; Cystic hygroma ; Ryanodine receptor 1 ; RYR1

刊名：BMC Musculoskeletal Disorders

出版年：2016

作者：Arthur B McKie (1)
Atif Alsaedi (2)
Julie Vogt (3)
Kyra E Stuurman (4)
Marjan M Weiss (4)
Hassan Shakeel (1)
Louise Tee (2)
Neil V Morgan (2)
Peter G J Nikkels (8)
Gijs van Haaften (6)
Soo-Mi Park (5)
Jasper J van der Smagt (6)
Marianna Bugiani (7)
Eamonn R Maher (1) (2) (5) (9)

1. Department of Medical Genetics ; University of Cambridge and NIHR Cambridge Biomedical Research Centre ; Cambridge Biomedical Campus ; Cambridge ; CB2 0QQ ; UK
2. Centre for Rare Diseases and Personalised Medicine ; University of Birmingham ; Edgbaston ; Birmingham ; B15 2TT ; UK
3. West Midlands Regional Genetics Service ; Birmingham Women鈥檚 Hospital ; Birmingham ; B15 2TG ; UK
4. Department of Clinical Genetics ; VU University Medical Center ; Amsterdam ; The Netherlands
8. Department of Pathology ; University Medical Center Utrecht ; Utrecht ; The Netherlands
6. Department of Medical Genetics ; University Medical Center Utrecht ; University of Utrecht ; Utrecht ; The Netherlands
5. Department of Clinical Genetics ; Addenbrooke鈥檚 Treatment Centre ; Cambridge University Hospitals NHS Foundation Trust ; Hills Road ; Cambridge ; CB2 0QQ ; UK
7. Department of Pathology ; VU University Medical Center ; Amsterdam ; the Netherlands
9. Department of Medical Genetics ; School of Clinical Medicine ; University of Cambridge ; Addenbrooke鈥檚 Treatment Centre ; Cambridge Biomedical Campus ; Box 238 ; Cambridge ; CB2 0QQ ; United Kingdom

关键词：Multiple pterygium syndrome ; Foetal akinesia ; RYR1 mutations ; Myopathy

刊名：Acta Neuropathologica Communications

出版年：2014

作者：Yah-Huei Wu-Chou (1) (2) (3)
Lun-Jou Lo (2) (4) (5)
Kuo-Ting Philip Chen (2) (4)
Chun-Shin Frank Chang (2) (3) (4)
Yu-Ray Chen (2) (3) (4)

关键词：IRF6 gene ; Mutation analyses ; Orofacial clefts

刊名：BMC Medical Genetics

出版年：2013

作者：Christopher C. Dodson MD (1)
Oheneba Boachie-Adjei MD (1)

关键词：Escobar syndrome ; spinal deformity ; restrictive lung disease ; multiple pterygium syndrome ; lordoscoliosis

刊名：HSS Journal ?

出版年：2005

作者：Helen Wainwright and Peter Beighton

关键词：Autopsy ; Chondrodysplasia ; Embryopathy ; Genetics ; Skeletal

刊名：Virchows Archiv

出版年：2010

作者： Alexander Gardetto and Hildegunde Piza-Katzer

关键词：Popliteal pterygium syndrome ; Surgical treatment

刊名：Pediatric Surgery International

出版年：2003

作者： Phillip M. Cox ; Louise A. Brueton ; Predrag Bjelogrlic ; Penelope Pomroy and Caroline A. Sewry

刊名：Pediatric and Developmental Pathology

出版年：2003

作者： M. Ohkubo ; T. Ino ; S. Shimazaki ; K. Yabuta ; R. Okada and T. Sato

关键词：Hypertrophic cardiomyopathy ; Multicore myopathy ; Multiple pterygium syndrome

刊名：Pediatric Cardiology

出版年：1996

作者：Alexander Gardetto and Hildegunde Piza-Katzer

关键词：Popliteal pterygium syndrome ; Surgical treatment

刊名：Pediatric Surgery International

出版年：2003

作者：Phillip M. Cox ; Louise A. Brueton ; Predrag Bjelogrlic ; Penelope Pomroy and Caroline A. Sewry

刊名：Pediatric and Developmental Pathology

出版年：2003