Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemie rickets.

被引:0
|
作者
Holm, IA
Nelson, AE
Carpenter, TO
Robinson, BG
Cowell, C
Mason, RS
Crawford, J
机构
[1] Childrens Hosp, Boston, MA 02115 USA
[2] Royal N Shore Hosp, Kolling Inst, Sydney, NSW, Australia
[3] New Childrens Hosp, Sydney, NSW, Australia
[4] Univ Sydney, Dept Physiol, Sydney, NSW 2006, Australia
[5] Yale Univ, Sch Med, New Haven, CT USA
[6] Massachusetts Gen Hosp, Boston, MA 02114 USA
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
WG17
引用
收藏
页码:S559 / S559
页数:1
相关论文
共 50 条
  • [41] 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
  • [42] 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
  • [43] 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
  • [44] A novel mutation of phex gene inducing x-linked Hypophosphatemia rickets, a case report
    Pinto, Renata
    Mendes, Arthur Francisco
    Barbosa, Julio Montes
    Steinmetz, Lucas
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 386 - 386
  • [45] Genotype-phenotype correlation in X-linked dystonia-Parkinsonism (XDP/DYT3)
    Dy, M. E.
    Talkowski, M. E.
    Multhaupt-Buell, T. J.
    Paul, L. R.
    Bragg, D. C.
    Sharma, N.
    MOVEMENT DISORDERS, 2015, 30 : S506 - S506
  • [46] Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets
    Sato, K
    Tajima, T
    Nakae, J
    Adachi, M
    Asakura, Y
    Tachibana, K
    Suwa, S
    Katsumata, N
    Tanaka, T
    Hayashi, Y
    Abe, S
    Murashita, M
    Okuhara, K
    Shinohara, N
    Fujieda, K
    PEDIATRIC RESEARCH, 2000, 48 (04) : 536 - 540
  • [47] X-linked hypophosphatemic rickets caused by a large deletion in PHEX gene in a Brazilian family
    Chini, Larissa
    Cabral, Larissa
    Cavalieri, Marilene
    Isaac, Alvaro
    Carneiro, Zumira
    Hirose, Thiago
    Lourenco, Charles
    HORMONE RESEARCH IN PAEDIATRICS, 2021, 94 (SUPPL 1): : 211 - 211
  • [48] Three Novel PHEX Gene Mutations in Japanese Patients with X-Linked Hypophosphatemic Rickets
    Kohei Sato
    Toshihiro Tajima
    Jun Nakae
    Masanori Adachi
    Yumi Asakura
    Katsuhiko Tachibana
    Seizo Suwa
    Noriyuki Katsumata
    Toshiaki Tanaka
    Yoshiki Hayashi
    Shuji Abe
    Mari Murashita
    Koji Okuhara
    Nozomi Shinohara
    Kenji Fujieda
    Pediatric Research, 2000, 48 : 536 - 540
  • [49] X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
    Christie, PT
    Harding, B
    Nesbit, MA
    Eddy, MC
    Whyte, MP
    Thakker, RV
    JOURNAL OF BONE AND MINERAL RESEARCH, 2000, 15 : S153 - S153
  • [50] Genotype-phenotype analysis in patients with X-linked lissencephaly with abnormal genitalia (XLAG), X-linked infantile spasms and X-linked mental retardation.
    Kato, M
    Peng, Y
    Kretzschmar, E
    Chen, P
    Raca, G
    Kitamura, K
    Sugiyama, N
    Fukuda, T
    Morohashi, K
    Das, S
    Dobyns, WB
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 179 - 179