Two sibling cases with heterozygous calcium sensing receptor (CaSR) gene mutation

被引:0
|
作者
Kurnaz, Erdal [1 ]
Savas-Erdeve, Senay [1 ]
Demirel, Nihal [2 ]
Aycan, Zehra [1 ,3 ]
Cetinkaya, Semra [1 ]
机构
[1] Dr Sami Ulus Obstet & Gynecol & Pediat Training &, Pediat Endocrinol Clin, Ankara, Turkey
[2] Univ Hlth Sci, Etlik Zubeyde Hanim Womens Hlth Teaching & Res Ho, Dept Neonatol, Ankara, Turkey
[3] Ankara Univ, Clin Pediat Endocrinol, Fac Med, Ankara, Turkey
来源
HORMONE RESEARCH IN PAEDIATRICS | 2021年 / 94卷 / SUPPL 1期
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
P2-88
引用
收藏
页码:221 / 222
页数:2
相关论文
共 50 条
  • [1] Neonatal Severe Hyperparathyroidism due to Compound Heterozygous Mutation of Calcium Sensing Receptor (CaSR) Gene Presenting as Encephalopathy
    Abhishek Kulkarni
    Mahesh Mohite
    Ramaa Vijaykumar
    Prasanna Bansode
    Sachin Murade
    Parag M. Tamhankar
    The Indian Journal of Pediatrics, 2014, 81 : 1228 - 1229
  • [2] Neonatal Severe Hyperparathyroidism due to Compound Heterozygous Mutation of Calcium Sensing Receptor (CaSR) Gene Presenting as Encephalopathy
    Kulkarni, Abhishek
    Mohite, Mahesh
    Vijaykumar, Ramaa
    Bansode, Prasanna
    Murade, Sachin
    Tamhankar, Parag M.
    INDIAN JOURNAL OF PEDIATRICS, 2014, 81 (11): : 1228 - 1229
  • [3] 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
  • [4] Three generations of an israeli family diagnosed with autosomal dominant activating mutation of the calcium sensing receptor (CaSR) gene
    Harari-shaham, A.
    Koren, I.
    Szalat, A.
    Sagi-Dain, L.
    Larom-Khan, G.
    Peleg, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 860 - 860
  • [5] Neonatal Hyperparathyroidism with a Heterozygous Calcium-Sensing Receptor (CASR) R185Q Mutation: Clinical Benefit from Cinacalcet
    Reh, Christina M. S.
    Hendy, Geoffrey N.
    Cole, David E. C.
    Jeandron, Debra D.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2011, 96 (04): : E707 - E712
  • [6] Role of Calcium sensing receptor (CaSR) in tumorigenesis
    Singh, Navneet
    Promkan, Moltira
    Liu, Guangming
    Varani, James
    Chakrabarty, Subhas
    BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM, 2013, 27 (03) : 455 - 463
  • [7] Association of the calcium sensing receptor gene CASR with blood pressure in normotensive subjects
    Foroud, T
    Flury, L
    Edenberg, ER
    Edenberg, HJ
    Xuei, XL
    Eckert, GJ
    Chun, TY
    Pratt, JH
    HYPERTENSION, 2005, 46 (04) : 836 - 836
  • [8] Calcium-sensing receptor (CaSR), a candidate-gene for calcium kidney stone disease
    Terranegra, Annalisa
    Arcidiacono, Teresa
    Biasion, Rita
    Paloschi, Vera
    Borghi, Loris
    Brandi, Maria Luisa
    Croppi, Emanuele
    Caudarella, Renata
    Tanini, Annalisa
    Gambaro, Giovanni
    Mossetti, Giuseppe
    Strazzullo, Pasquale
    Trinchieri, Alberto
    Cusi, Daniele
    Soldati, Laura
    Vezzoli, Giuseppe
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2006, 21 : 292 - 292
  • [9] 'Calcium-sensing' in the kidney: the calcium-sensing receptor CaSR and beyond
    Houillier, P.
    FUNDAMENTAL & CLINICAL PHARMACOLOGY, 2012, 26 : 6 - 6
  • [10] Recurrent Acute Pancreatitis Caused by Association of a Novel Mutation of the Calcium-Sensing Receptor Gene and a Heterozygous Mutation of the SPINK1 Gene
    Baudry, Clotilde
    Rebours, Vinciane
    Houillier, Pascal
    Hammel, Pascal
    Ruszniewski, Philippe
    Levy, Philippe
    PANCREAS, 2010, 39 (03) : 420 - 421