Metachromatic leucodystrophy: A family with uncertain genotype-phenotype correlation

被引:0
|
作者
Halsall, David
Roos, J. C. P.
Elsey, T. S.
Stein, P.
Calvin, J.
机构
[1] Addenbrookes Hosp NHS Trust, Cambridge, England
[2] Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:S48 / S48
页数:1
相关论文
共 50 条
  • [11] The genotype-phenotype correlation in Pompe disease
    Kroos, Marian
    Hoogeveen-Westerveld, Marianne
    van der Ploeg, Ans
    Reuser, Arnold J. J.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2012, 160C (01) : 59 - 68
  • [12] GENOTYPE-PHENOTYPE CORRELATION IN FMF PATIENTS
    Gurpinar, Gozde
    Akinci, Nurver
    Ozcelik, Gul
    Yildirmak, Yildiz
    PEDIATRIC NEPHROLOGY, 2018, 33 (10) : 1946 - 1946
  • [13] Genotype-phenotype correlation in Marfan syndrome
    Child, AH
    Arahon-Martin, J
    Comeglio, P
    MATRIX BIOLOGY, 2004, 23 (06) : 396 - 397
  • [14] GENOTYPE-PHENOTYPE CORRELATION IN HEREDITARY SPHEROCYTOSIS
    Olmedo A, Lobo
    Del Orbe Barreto, R. A.
    Pampliega M, Vara
    Del Castillo L, Aranguren
    Varela M, Alonso
    Berganza P, Arana
    Garcia Ruiz, J. C.
    HAEMATOLOGICA, 2021, 106 (10) : 109 - 110
  • [15] BIOTINIDASE DEFICIENCY: A GENOTYPE-PHENOTYPE CORRELATION
    Daoud, Ghaleb
    Karam, Pascale
    MOLECULAR GENETICS AND METABOLISM, 2016, 117 (03) : 252 - 253
  • [16] Genotype-phenotype correlation in hypertrophic cardiomyopathy
    Castella, A.
    Spoladore, R.
    D'amato, R.
    Benedetti, S.
    Di Resta, C.
    Ferrari, M.
    Olivotto, I.
    Camici, P. G.
    EUROPEAN JOURNAL OF HEART FAILURE, 2013, 12 : S169 - S169
  • [17] Nephronophthisis: A review of genotype-phenotype correlation
    Luo, Fenglan
    Tao, Yu-Hong
    NEPHROLOGY, 2018, 23 (10) : 904 - 911
  • [18] Genotype-phenotype correlation in Down syndrome
    Trivino, E
    Sierra, C
    Dolade, M
    Navarro, E
    Brandi, N
    Mira, A
    Cabre, E
    Martin, S
    Pastor, MC
    Crespo, M
    SeresSantamaria, A
    Gimenez, C
    CYTOGENETICS AND CELL GENETICS, 1997, 77 : 22 - 23
  • [19] Genotype-phenotype correlation in colorectal polyposis
    Newton, K. F.
    Mallinson, E. K. L.
    Bowen, J.
    Lalloo, F.
    Clancy, T.
    Hill, J.
    Evans, D. G. R.
    CLINICAL GENETICS, 2012, 81 (06) : 521 - 531
  • [20] Genotype-phenotype correlation in Apert syndrome
    Mcglaughlin, K.
    Anderson, P.
    Netherway, D.
    Roscioli, T.
    Yusof, A.
    Carney, B.
    Coxon, R.
    David, D.
    Craniofacial Surgery, 2005, : 297 - 299