A novel homozygous mutation of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia

被引:1
|
作者
Li, Nan [1 ,2 ]
Li, Xiang [3 ]
Ni, Xiao-Lin [3 ]
Li, Xiu-Ying [1 ,4 ]
Xia, Wei-Bo [3 ]
Yang, Guo-Qing [1 ]
Pei, Yu [1 ]
机构
[1] Chinese Peoples Liberat Army Gen Hosp, Med Ctr 1, Dept Endocrinol, Beijing 100853, Peoples R China
[2] Chinese Peoples Liberat Army Gen Hosp, Med Ctr 2, Dept Endocrinol, Beijing 100853, Peoples R China
[3] Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R China
[4] Capital Med Univ, Liangxiang Teaching Hosp, Dept Endocrinol, Beijing 102401, Peoples R China
关键词
D O I
10.1097/CM9.0000000000001568
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1869 / 1871
页数:3
相关论文
共 50 条
  • [1] A novel homozygous mutation of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia
    Li Nan
    Li Xiang
    Ni Xiao-Lin
    Li Xiu-Ying
    Xia Wei-Bo
    Yang Guo-Qing
    Pei Yu
    中华医学杂志英文版, 2021, 134 (15) : 1869 - 1871
  • [2] A Novel Loss-of-Function Mutation, Gln459Arg, of the Calcium-Sensing Receptor Gene Associated with Apparent Autosomal Recessive Inheritance of Familial Hypocalciuric Hypercalcemia
    Lietman, Steven A.
    Tenenbaum-Rakover, Yardena
    Jap, Tjin Shing
    Yi-Chi, Wu
    De-Ming, Yang
    Ding, Changlin
    Kussiny, Najat
    Levine, Michael A.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (11): : 4372 - 4379
  • [3] Novel Mutation in the Calcium-Sensing Receptor Gene Associated With Familial Hypocalciuric Hypercalcemia
    Al Kayed, Hadeel A.
    Islam, Saif U.
    Akanmode, Olayemi J.
    Ezike, Lynda A.
    Mirza, Lubna
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2024, 16 (08)
  • [4] Familial hypocalciuric hypercalcemia type 1 due to a novel homozygous mutation of the calcium-sensing receptor gene
    Borsari, S.
    Marcocci, C.
    Cetani, F.
    JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2017, 40 (11): : 1271 - 1272
  • [5] Familial hypocalciuric hypercalcemia type 1 due to a novel homozygous mutation of the calcium-sensing receptor gene
    S. Borsari
    C. Marcocci
    F. Cetani
    Journal of Endocrinological Investigation, 2017, 40 : 1271 - 1272
  • [6] Description of a novel calcium-sensing receptor mutation associated with familial hypocalciuric hypercalcemia.
    Swiglo, B. A.
    Kennel, K. A.
    Grebe, S. K.
    JOURNAL OF BONE AND MINERAL RESEARCH, 2006, 21 : S448 - S448
  • [7] Identification of a novel calcium-sensing receptor (CASR) gene mutation in a patient with familial hypocalciuric hypercalcemia
    Ortiz Espejo, M.
    Batanero Maguregui, R.
    Montalban Carrasco, C.
    Ramos Ramos, L.
    Garcia Sardina, R.
    Esparza Del Valle, C.
    Fananas Rodriguez, N.
    Maiztegui Azpitarte, A.
    CLINICA CHIMICA ACTA, 2019, 493 : S229 - S229
  • [8] Identification and functional analysis of novel calcium-sensing receptor gene mutation in familial hypocalciuric hypercalcemia
    Nanjo, Kazuhiro
    Nagai, So
    Shimizu, Chikara
    Tajima, Toshihiro
    Kondo, Takuma
    Miyoshi, Hideaki
    Yoshioka, Narihito
    Koike, Takao
    ENDOCRINE JOURNAL, 2010, 57 (09) : 787 - 792
  • [10] Familial hypocalciuric hypercalcemia associated with a novel homozygous loss-of-function mutation, E671D, of the calcium-sensing receptor gene
    Cetani, Filomena
    Borsari, Simona
    Pardi, Elena
    Bagattini, Brunella
    Saponaro, Federica
    Marcocci, Claudio
    JOURNAL OF BONE AND MINERAL RESEARCH, 2014, 29 : S485 - S485