Novel DTDST mutation in a Moroccan patient with diastrophic dysplasia

被引：0
|
作者：
Mansouri, Maria [1 ]
El Qabli, Meriem [1 ]
Moussaoui, Abdmajid [1 ]
Akallakh, Hassan [1 ]
Bouzid, Fatima Zahrae [1 ]
Soufian, Loubna [1 ]
Aboussair, Nisrine [1 ,2 ]
机构：
[1] Mohammed VI Univ Hosp, Dept Genet, Clin Res Ctr, Marrakech, Morocco
[2] Cadi Ayyad Univ, Sch Med, Marrakech, Morocco
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷
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：
EP05.040
引用
收藏
页码：133 / 134
页数：2
相关论文
共 50 条
  • [1] Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia
    Mégarbané, A
    Haddad, FA
    Haddad-Zebouni, S
    Achram, M
    Eich, G
    Le Merrer, M
    Superti-Furga, A
    CLINICAL GENETICS, 1999, 56 (01) : 71 - 76
  • [2] Diastrophic dysplasia sulfate transporter (DTDST) gene is not involved in pseudodiastrophic dysplasia
    Cetta, G
    Rossi, A
    Burgio, GR
    Beluffi, G
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 73 (04): : 493 - 494
  • [3] A Phenotype Intermediate Between Desbuquois Dysplasia and Diastrophic Dysplasia Secondary to Mutations in DTDST
    Panzer, K. M.
    Lachman, R.
    Modaff, P.
    Pauli, R. M.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (22) : 2920 - 2924
  • [4] A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia
    Miyake, Atsushi
    Nishimura, Gen
    Futami, Toru
    Ohashi, Hirofumi
    Chiba, Kazuhiro
    Toyama, Yoshiaki
    Furuichi, Tatsuya
    Ikegawa, Shiro
    JOURNAL OF HUMAN GENETICS, 2008, 53 (08) : 764 - 768
  • [5] A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia
    Atsushi Miyake
    Gen Nishimura
    Toru Futami
    Hirofumi Ohashi
    Kazuhiro Chiba
    Yoshiaki Toyama
    Tatsuya Furuichi
    Shiro Ikegawa
    Journal of Human Genetics, 2008, 53 : 764 - 768
  • [6] Mutations in the Diastrophic Dysplasia Gene (DTDST) are not a frequent cause of Idiopathic Talipes Equinovarus (Clubfoot).
    Bonafe, L
    Blanton, SH
    Scott, A
    Ward, A
    Broussard, S
    Wise, CA
    Superta-Furga, A
    Hecht, JT
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 504 - 504
  • [7] A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia
    Maeda, Koichi
    Miyamoto, Yoshinari
    Sawai, Hideaki
    Karniski, Lawrence P.
    Nakashima, Eiji
    Nishimura, Gen
    Ikegawa, Shiro
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (11) : 1143 - 1147
  • [8] ATELOSTEOGENESIS TYPE-II IS CAUSED BY MUTATIONS IN THE DIASTROPHIC DYSPLASIA SULFATE TRANSPORTER GENE (DTDST)
    HASTBACKA, J
    WILCOX, WR
    SUPERTIFURGA, A
    RIMOIN, DL
    COHN, DH
    LANDER, ES
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 244 - 244
  • [9] Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia
    Wang, Dong
    Qin, Jie
    Zhao, Chenguang
    He, Xijing
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2014, 27 (1-2): : 75 - 80
  • [10] Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 Novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance
    Rossi, A
    Superti-Furga, A
    HUMAN MUTATION, 2001, 17 (03) : 159 - 171
12345