Identification of biallelic <i>LRRK1</i> mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity
Aritoshi Iida(RIKEN Center for Integrative Medical Sciences), Shiro Ikegawa(RIKEN Center for Integrative Medical Sciences), Gen Nishimura(Musashino University), Wim Van Hul(University of Antwerp), Tomoki Nakashima(Tokyo Medical and Dental University), Weirong Xing(VA Loma Linda Healthcare System), D. Rating(Defence Research and Development Organisation), Subburaman Mohan(VA Loma Linda Healthcare System), Mamori Kimizuka(National Rehabilitation Center for Persons with Disabilities), M. Docx(Queen Fabiola Children's University Hospital), Naomichi Matsumoto(Yokohama City University), Zheng Wang(Chinese Academy of Medical Sciences & Peking Union Medical College), Jürgen W. Spranger, Noriko Miyake(National Center for Global Health and Medicine), H Ohashi(Saitama Children's Medical Center), Geert Mortier(Center for Human Genetics)
Cited by 49
Related Papers
Insulin-Like Growth Factor-Binding Proteins in Serum and Other Biological Fluids: Regulation and Functions*
|Endocrine Reviews|1997|1.1k
International nosology of heritable disorders of connective tissue, Berlin, 1986
|American Journal of Medical Genetics|1988|733
Nosology and classification of genetic skeletal disorders: 2010 revision
|American Journal of Medical Genetics Part A|2011|717
Nosology and classification of genetic skeletal disorders: 2019 revision
|American Journal of Medical Genetics Part A|2019|620