Clinical and molecular spectrum of CHOPS syndrome

Author:

Raible Sarah E.12,Mehta Devanshi1,Bettale Chiara1,Fiordaliso Sarah1,Kaur Maninder12,Medne Livija12,Rio Marlene3,Haan Eric4,White Susan M.5,Cusmano‐Ozog Kristina6,Nishi Eriko7,Guo Yiran8,Wu Honglin9,Shi Xiaoqing9,Zhao Qingjie9,Zhang Xueqin9,Lei Qi9,Lu Aimei9,He Xiyu9,Okamoto Nobuhiko7ORCID,Miyake Noriko10ORCID,Piccione Joseph1112,Allen Julian1112,Matsumoto Naomichi7,Pipan Mary1213,Krantz Ian D.1212,Izumi Kosuke1212ORCID

Affiliation:

1. Division of Human GeneticsThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

2. Roberts Individualized Medical Genetics Center (RIMGC)The Children's Hospital of Philadelphia Philadelphia Pennsylvania

3. Department of GeneticsHôpital Necker‐Enfants Malades, AP‐HP Paris France

4. Australia and Faculty of Health and Medical SciencesAdult Genetics Unit, Royal Adelaide Hospital, University of Adelaide Adelaide South Australia Australia

5. Department of PaediatricsVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne Melbourne Australia

6. Rare Disease InstituteChildren's National Health System Washington District of Columbia

7. Department of Medical GeneticsOsaka Women's and Children's Hospital Osaka Japan

8. Center for Data Driven Discovery in BiomedicineChildren's Hospital of Philadelphia Philadelphia Pennsylvania

9. Department of PediatricsThe 307 Hospital Beijing China

10. Department of Human GeneticsYokohama City University Graduate School of Medicine Yokohama Japan

11. Division of Pulmonary Medicine and Center for Pediatric Airway DisordersThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

12. Department of PediatricsThe Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania

13. Developmental Behavioral PediatricsChildren's Hospital of Philadelphia Philadelphia Pennsylvania

Funder

Japan Agency for Medical Research and Development

Takeda Science Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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