Author information:
(1)Department of Physiology, School of Medicine, Taipei Medical University, 
110301 Taipei, Taiwan; Institute of Biomedical Sciences, Academia Sinica, 115201 
Taipei, Taiwan.
(2)Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino 
Gesù, IRCCS, 00146 Rome, Italy.
(3)Institute of Human Genetics, Julius Maximilians University, 97074 Würzburg, 
Germany; Department of Otolaryngology - Head and Neck Surgery, Eberhard Karls 
University, 72076 Tübingen, Germany.
(4)NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, 
University of Oxford, OX3 7BN Oxford, UK.
(5)Genetics and Molecular Cell Sciences Research Centre, St George's University 
of London, Cranmer Terrace, SW17 0RE London, UK.
(6)Centogene AG, 18055 Rostock, Germany.
(7)Department of Clinical Genetics, Leiden University Medical Center, 2300 RC 
Leiden, the Netherlands.
(8)Department of Paediatric Endocrinology, Emma Children's Hospital, Amsterdam 
University Medical Center, 1105 AZ Amsterdam, the Netherlands.
(9)Department of Cell and Molecular Biology & Microbiology, University of 
Isfahan, 8174673441 Isfahan, Iran.
(10)Confocal Microscopy Core Facility, Research Laboratories, IRCCS Ospedale 
Pediatrico Bambino Gesù, 00146 Rome, Italy.
(11)Department of Genetics, King Faisal Specialist Hospital and Research Center, 
11211 Riyadh, Saudi Arabia; Qatar Biomedical Research Institute, Hamad Bin 
Khalifa University, 34110 Doha, Qatar.
(12)Pediatric Endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam 
Healthcare Campus, 352540 Haifa, Israel; Ruth and Bruce Rappaport Faculty of 
Medicine, Technion, Israel Institute of Technology, 352540 Haifa, Israel.
(13)Pediatric Endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam 
Healthcare Campus, 352540 Haifa, Israel.
(14)Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 
Tel-Hashomer, Israel; The Sackler Faculty of Medicine, Tel-Aviv University, 
6997801 Tel-Aviv, Israel.
(15)Department of Pediatric Endocrinology, Gaziantep Cengiz Gökcek Maternity & 
Children's Hospital, 27010 Gaziantep, Turkey.
(16)Department of Pediatrics, Leiden University Medical Center, 2333ZA Leiden, 
the Netherlands.
(17)Institute of Human Genetics, Julius Maximilians University, 97074 Würzburg, 
Germany; Institute of Bioinformatics, Julius Maximilians University, 97070 
Würzburg, Germany.
(18)Unidade de Endocrinologia Genética, Hospital das Clínicas da Faculdade de 
Medicina da Universidade de Sao Paulo, 01246903 Sao Paulo, Brazil.
(19)Unidade de Genética do Instituto da Criança, Hospital das Clínicas da 
Faculdade de Medicina da Universidade de Sao Paulo, 05403000 Sao Paulo, Brazil.
(20)Sheba Cancer Research Center, Sheba Medical Center, 52621 Tel-Hashomer, 
Israel; Wohl Institute for Translational Medicine, Sheba Medical Center, 52621 
Tel-Hashomer, Israel.
(21)Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, 
SE1 9RT London, UK; Birmingham Women's and Children's NHS Foundation Trust, 
University of Birmingham, B4 6NH Birmingham, UK.
(22)Department of Paediatrics, Sheikh Khalifa Medical City, 51900 Abu Dhabi, 
United Arab Emirates.
(23)Johns Hopkins Aramco Healthcare, 34465 Dhahran, Saudi Arabia.
(24)Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, 
SE1 9RT London, UK.
(25)Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 
Tel-Hashomer, Israel; The Sackler Faculty of Medicine, Tel-Aviv University, 
6997801 Tel-Aviv, Israel; Wohl Institute for Translational Medicine, Sheba 
Medical Center, 52621 Tel-Hashomer, Israel.
(26)Department of Medical Genetics, Kasturba Medical College, Manipal Academy of 
Higher Education, Manipal 576104, India.
(27)Institute of Human Genetics, Julius Maximilians University, 97074 Würzburg, 
Germany.
(28)Department of Genetics, King Faisal Specialist Hospital and Research Center, 
11211 Riyadh, Saudi Arabia.
(29)Institute of Biomedical Sciences, Academia Sinica, 115201 Taipei, Taiwan; 
Ph.D. Program in Drug Discovery and Development Industry, College of Pharmacy, 
Taipei Medical University, 110301 Taipei, Taiwan; Institute of Pharmacology, 
School of Medicine, National Yang-Ming University, 112304, Taipei, Taiwan. 
Electronic address: rbyang@ibms.sinica.edu.tw.
(30)Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino 
Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net.