A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature
Chong Kun Cheon, Hoon Sang Lee, Su Yung Kim, Min Jung Kwak, Gu-Hwan Kim, Han-Wook Yoo
Ann Pediatr Endocrinol Metab. 2014;19(1):36-41.   Published online 2014 Mar 31     DOI: https://doi.org/10.6065/apem.2014.19.1.36
Citations to this article as recorded by Crossref logo
Phenotypes of a family with XLH with a novel PHEX mutation
Akiko Yamamoto, Toshiro Nakamura, Yasuhisa Ohata, Takuo Kubota, Keiichi Ozono
Human Genome Variation.2020;[Epub]     CrossRef
Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia
Silvia Elena Yacarini Paredes, Raquel Assed Bezerra Segato, Leila Daher Moreira, Alcides Moreira, Kranya Victoria Díaz Serrano, Clarissa Teles Rodrigues, Luciana Yamamoto Almeida, Jorge Esquiche León
Head and Neck Pathology.2018; 12(4): 604.     CrossRef
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets
Xinfu Lin, Yaobin Zhu, Jiewei Luo, Jianbin Huang
Journal of Pediatric Endocrinology and Metabolism.2018; 31(7): 789.     CrossRef
A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin
Annals of Pediatric Endocrinology & Metabolism.2018; 23(4): 229.     CrossRef
X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female
Alaina P. Vidmar, Brian Miyazaki, Pedro A. Sanchez-Lara, Pisit Pitukcheewanont
Journal of Bone Metabolism.2017; 24(4): 257.     CrossRef
Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets
Sara L. Ma, Virginia Vega-Warner, Christopher Gillies, Matthew G. Sampson, Vijay Kher, Sidharth K. Sethi, Edgar A. Otto, Anthony W.I. Lo
PLOS ONE.2015; 10(6): e0130729.     CrossRef
Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia
Xunlun Sheng, Xue Chen, Bo Lei, Rui Chen, Hui Wang, Fangxia Zhang, Weining Rong, Ruoshui Ha, Yani Liu, Feng Zhao, Peizeng Yang, Chen Zhao
Journal of Translational Medicine.2015;[Epub]     CrossRef