A case of vitamin D dependent rickets type 1a with a novel mutation in the Turkish population

被引:0
|
作者
Tasdemir, P. [1 ]
Eklioglu, B. S. [2 ]
Atabek, M. E. [2 ]
机构
[1] Necmettin Erbakan Univ, Fac Med, Dept Med Genet, Konya, Turkey
[2] Necmettin Erbakan Univ, Fac Med, Dept Pediat Endocrinol & Diabet, Konya, Turkey
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
E-P03.10
引用
收藏
页码:856 / 856
页数:1
相关论文
共 50 条
  • [21] Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review
    Dodamani, Manjunath Havalappa
    Sehemby, Manjeetkaur
    Memon, Saba Samad
    Sarathi, Vijaya
    Lila, Anurag R.
    Chapla, Aaron
    Bhandare, Vishwambhar Vishnu
    Patil, Virendra A.
    Shah, Nalini S.
    Thomas, Nihal
    Kunwar, Ambarish
    Bandgar, Tushar R.
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2021, 34 (12): : 1505 - 1513
  • [22] Genotype and Phenotype Characterization of Turkish Patients with Vitamin D Dependent Rickets Type IA
    Kaygusuz, Sare Betul
    Ata, Pinar
    Kirkgoz, Tarik
    Abali, Zehra Yavas
    Eltan, Mehmet
    Tosun, Busra Gurpinar
    Menevse, Tuba Seven
    Helvacioglu, Didem
    Guran, Tulay
    Arman, Ahmet
    Bereket, Abdullah
    Turan, Serap
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 215 - 215
  • [23] A novel CYP27B1 mutation causes a feline vitamin D-dependent rickets type IA
    Grahn, Robert A.
    Ellis, Melanie R.
    Grahn, Jennifer C.
    Lyons, Leslie A.
    JOURNAL OF FELINE MEDICINE AND SURGERY, 2012, 14 (08) : 587 - 590
  • [24] Vitamin D dependent rickets type I and II: Case reports
    Gulez, Pamir
    Hizarcioglu, Murat
    IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, 2011, 1 (03): : 131 - 136
  • [25] A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the CYP27B1 Gene
    Giannakopoulos, Aris
    Efthymiadou, Alexandra
    Chrysis, Dionisios
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 87 (01): : 58 - 63
  • [26] Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population
    Chagas, Joana de Brito
    Cordinha, Carolina
    do Carmo, Carmen
    Alves, Cristina
    Heath, Karen E.
    Sousa, Sergio B.
    Gomes, Clara
    JOURNAL OF PEDIATRIC GENETICS, 2021,
  • [27] CASE OF VITAMIN-D-DEPENDENT RICKETS
    TSURUTA, T
    KAMIYA, H
    CALCIFIED TISSUE RESEARCH, 1975, 19 (03): : 231 - 232
  • [28] Novel vitamin D 1α-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient
    Cao, Lihua
    Liu, Fang
    Wang, Yu
    Ma, Jian
    Wang, Shusen
    Wang, Libo
    Zhang, Yang
    Chen, Chen
    Luo, Yang
    Ma, Hongwei
    JOURNAL OF GENETICS, 2011, 90 (02) : 339 - 342
  • [29] Novel vitamin D 1α-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient
    LIHUA CAO
    FANG LIU
    YU WANG
    JIAN MA
    SHUSEN WANG
    LIBO WANG
    YANG ZHANG
    CHEN CHEN
    YANG LUO
    HONGWEI MA
    Journal of Genetics, 2011, 90 : 339 - 342
  • [30] Vitamin D dependent rickets Type 2A: A case series of two siblings with novel mutation in vitamin D receptors responded to high dose oral calcium and calcitriol
    Mehak, Noor-ul-ain
    Aftab, Sommayya
    Hussain, Syed Saddam
    Imran, Ahmed
    Qureshi, Abid Ali
    Saeed, Anjum
    Cheema, Huma Arshad
    HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 338 - 338