相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee
T. Rolvien et al.
OSTEOPOROSIS INTERNATIONAL (2019)
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome
Christina Y. Hung et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)
Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome
Kei Tamai et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
A case of Raine syndrome presenting with facial dysmorphy and review of literature
Jayesh Sheth et al.
BMC MEDICAL GENETICS (2018)
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)
Michael P. Whyte et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2017)
Specific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia
Peihong Liu et al.
SCIENTIFIC REPORTS (2017)
Non lethal Raine syndrome and differential diagnosis
Siham Chafai Elalaoui et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2016)
Report of a case of Raine syndrome and literature review
Mohammed Zain Seidahmed et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations
Ana Carolina Acevedo et al.
BMC MEDICAL GENETICS (2015)
Raine syndrome: An overview
Victor Faundes et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2014)
Inactivation of Fam20C in Cells Expressing Type I Collagen Causes Periodontal Disease in Mice
Peihong Liu et al.
PLOS ONE (2014)
The Raine Syndrome Protein FAM20C Is a Golgi Kinase That Phosphorylates Bio-Mineralization Proteins
Hiroyuki O. Ishikawa et al.
PLOS ONE (2012)
Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in Mice
Xiaofang Wang et al.
PLOS GENETICS (2012)
Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia
M. A. Simpson et al.
CLINICAL GENETICS (2009)
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development
M. A. Simpson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
分享论文
