Diversity in Phenotype of Two Siblings and their with X-Linked Hypophosphatemic Rickets due to PHEX Mutation

被引:0
|
作者
Rojek, Aleksandra [1 ]
Kolesinska, Zofia [2 ]
Niedziela, Marek [1 ,3 ]
机构
[1] Poznan Univ Med Sci, Dept Pediat Endocrinol & Rheumatol, Mol Endocrinol Lab, Poznan, Poland
[2] Poznan Univ Med Sci, Dept Pediat Endocrinol & Rheumatol, Poznan, Poland
[3] Karol Jonschers Clin Hosp, Poznan, Poland
来源
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P2-P166
引用
收藏
页码:189 / 189
页数:1
相关论文
共 50 条
  • [1] Novel PHEX mutation associated with X-linked hypophosphatemic rickets
    Roetzer, K. M.
    Varga, F.
    Zwettler, E.
    Nawrot-Wawrzyniak, K.
    Haller, J.
    Forster, E.
    Klaushofer, K.
    BONE, 2006, 39 (05) : S21 - S21
  • [2] A novel mutation of PHEX causes a dominant X-linked hypophosphatemic rickets
    Masi, L.
    Sala, S. Carbonell
    Gozzini, A.
    Pela, I.
    Luzi, E.
    Franceschelli, F.
    Tanini, A.
    Brandi, M.
    BONE, 2007, 40 (06) : S62 - S62
  • [3] PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country
    Maria Forero-Delgadillo, Jessica
    Cleves, Daniela
    Ochoa, Vanessa
    Londono-Correa, Hernando
    Manuel Restrepo, Jaime
    Antonio Nastasi-Catanese, Jose
    Pachajoa, Harry
    APPLICATION OF CLINICAL GENETICS, 2020, 13 : 57 - 62
  • [4] x-linked hypophosphatemic rickets due to mutations in PHEX: Clinical and evolutionary variability
    Martos Moreno, Gabriel A.
    Aparicio, Cristina
    de Lucas, Carmen
    Gil Pena, Helena
    Argente, Jesus
    ANALES DE PEDIATRIA, 2016, 85 (01): : 41 - 43
  • [5] PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets
    Yang, Lili
    Yang, Jianbin
    Huang, Xinwen
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2013, 26 (11-12): : 1179 - 1183
  • [6] Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets
    Lo, Fu-Sung
    Kuo, Min-Tzu
    Wang, Chao-Jan
    Chang, Chia-Hsieh
    Lee, Zhon-Liau
    Van, Yang-Hau
    NEPHRON PHYSIOLOGY, 2006, 103 (04): : 157 - 163
  • [7] A Novel PHEX Mutation in A Case Followed Up with A Diagnosis of X-linked Hypophosphatemic Rickets
    Demirbas, Ozgecan
    Eren, Erdal
    Öngen, Yasemin Denkboy
    Sag, Sebnem Ozemri
    Gürkan, Hakan
    Temel, Sehime Gulsun
    GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS, 2023, 21 (01): : 98 - 101
  • [8] Novel PHEX Mutations and Mechanisms For X-linked Hypophosphatemic Rickets
    Alzoebie, Lama
    Weber, David
    Li, Dong
    Levine, Michael
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 1): : 26 - 27
  • [9] TWO NOVEL PHEX GENE MUTATIONS IN CHINESE PATIENTS WITH X-LINKED HYPOPHOSPHATEMIC RICKETS
    Xiong, Feng
    Ran, Qing
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 264 - 264
  • [10] X-linked hypophosphatemic rickets: a new mutation
    Maio, Patricia
    Mano, Lia
    Rocha, Sara
    Baptista, Rute Baeta
    Francisco, Telma
    Sousa, Helena
    Freixo, Joao Parente
    Abranches, Margarida
    JORNAL BRASILEIRO DE NEFROLOGIA, 2021, 43 (02): : 279 - 282