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
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
  • [21] THE SPINE IN DIASTROPHIC DYSPLASIA
    POUSSA, M
    MERIKANTO, J
    RYOPPY, S
    MARTTINEN, E
    KAITILA, I
    SPINE, 1991, 16 (08) : 881 - 887
  • [22] ABNORMALITY OF TYPE-IX COLLAGEN IN A PATIENT WITH DIASTROPHIC DYSPLASIA
    DIAB, M
    WU, JJ
    SHAPIRO, F
    EYRE, D
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 49 (04): : 402 - 409
  • [24] DIASTROPHIC DYSPLASIA: CLINICAL, RADIOLOGICAL, CYTOGENETIC AND MOLECULAR CHARACTERIZATION OF A PATIENT
    Ramirez Castro, Jose Luis
    Cock Rada, Alicia Maria
    Mora Henao, Beatriz Eugenia
    Ramirez Gaviria, Gloria C.
    Vasquez Palacio, Gonzalo
    Prada Quiroz, Ana Elvira
    IATREIA, 2005, 18 (01) : 40 - 48
  • [25] Novel ANKH Mutation in a Patient With Sporadic Craniometaphyseal Dysplasia
    Zajac, Allison
    Baek, Seung-Hak
    Salhab, Imad
    Radecki, Melissa A.
    Kim, Sukwha
    Hakonarson, Hakon
    Nah, Hyun-Duck
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (03) : 770 - 776
  • [26] Management of a Parturient with Diastrophic Dysplasia
    Lagoy, Jacqueline S.
    Kofford, Nathaniel D.
    Gosselin, Benoit J.
    Russell, Michelle A.
    Morley, Benjamin D.
    A & A CASE REPORTS, 2015, 5 (01) : 6 - 8
  • [27] EXCLUSION OF THE COL2A1 GENE AS THE MUTATION SITE IN DIASTROPHIC DYSPLASIA
    ELIMA, K
    KAITILA, I
    MIKONOJA, L
    ELONSALO, U
    PELTONEN, L
    VUORIO, E
    JOURNAL OF MEDICAL GENETICS, 1989, 26 (05) : 314 - 319
  • [28] PHENOTYPIC VARIABILITY OF DIASTROPHIC DYSPLASIA
    HORTON, WA
    RIMOIN, DL
    LACHMAN, RS
    SKOVBY, F
    HOLLISTER, DW
    SPRANGER, J
    SCOTT, CI
    HALL, JG
    JOURNAL OF PEDIATRICS, 1978, 93 (04): : 609 - 613
  • [29] PSEUDO-DIASTROPHIC DYSPLASIA
    BERTRAND, JG
    TYAZI, A
    ZAOUI, C
    VANDEVELDE, MF
    DESMETTRE, C
    RAMAHERISSON, P
    CUINGNET, PH
    NOEL, JL
    BERTRAND, J
    ANNALES DE PEDIATRIE, 1991, 38 (01): : 19 - 22
  • [30] A novel frameshift mutation in the XPC gene in a Moroccan patient: A case report
    Doubaj Y.
    Smaili W.
    Laarabi F.-Z.
    Sefiani A.
    Journal of Medical Case Reports, 11 (1)