Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo‐meta‐epiphyseal dysplasia,short limb‐abnormal calcification type期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo‐meta‐epiphyseal dysplasia,short limb‐abnormal calcification type

Authors:	Maria Mansouri Hülya Kayserili Siham Chafai Elalaoui Gen Nishimura Aritoshi Iida Jaber Lyahyai Noriko Miyake Naomichi Matsumoto Abdelaziz Sefiani Shiro Ikegawa

Affiliation:	1. Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco;2. Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie de Rabat, Université Mohammed V Souissi, Rabat, Morocco;3. Correspondence to:;4. Maria Mansouri and Siham Chafai Elalaoui, Département de Génétique Médicale, Institut National d'Hygiène, 27 Avenue Ibn Batouta, B.P. 769, 11400 Rabat, Morocco. E‐mail: (M. Mansouri);5. E‐mail: (S. Chafai Elalaoui);6. Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, İstanbul, Turkey;7. Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Japan;8. Laboratory of Bone and Joint Diseases, RIKEN Center for Integrated Medical Sciences, Tokyo, Japan;9. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan

Abstract:

Keywords:	spondylo‐meta‐epiphyseal dysplasia short limb‐abnormal calcification type DDR2 novel mutation exome sequencing