Genotype-phenotype correlation in children with SHOX gene variants

被引：0
|
作者：
Shapiro, Sofia [1 ]
Klein, Genna W. [1 ]
Novoa, Yeray [1 ]
Fujimura, Frank [2 ]
Wallach, Elizabeth [1 ]
Rapaport, Robert [1 ]
机构：
[1] Mt Sinai Sch Med, Div Pediat Endocrinol & Diabet, New York, NY USA
[2] Esoterix Labs, Dept Mol Genet, Calabasas Hills, CA USA
来源：
HORMONE RESEARCH | 2009年 / 72卷
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：
引用
收藏
页码：247 / 248
页数：2
相关论文
共 50 条
  • [21] Genotype-Phenotype Correlation For Children With Abca3 Mutations
    Casey, A. M. H.
    Wambach, J. A.
    Fishman, M.
    Cole, F. S.
    Hamvas, A.
    Nogee, L.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2014, 189
  • [22] Genotype-Phenotype Correlation in 440 Children With Congenital Hyperinsulinism (HI)
    Snider, Kara
    Ganguly, Arupa
    Becker, Susan
    Boyajian, Linda
    Shyng, Showling
    Macmullen, Courtney
    Hughes, Nkecha
    Ganapathy, Karthik
    Bhatti, Tricia
    Lee, Amanda
    Stanley, Charles
    DIABETES, 2012, 61 : A93 - A94
  • [23] Genotype-phenotype correlation in Bethlem myopathy
    Pepe, G
    Lucioli, S
    Vanegas, OC
    Minosse, C
    Giusti, B
    Urtizberea, JA
    Muntoni, F
    Bushby, K
    de Visser, M
    Bönnemann, C
    Sabatelli, P
    Bertini, E
    Merlini, L
    Chu, ML
    NEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 720 - 721
  • [24] Genotype-phenotype correlation in gemistocytic astrocytomas
    Kösel, S
    Scheithauer, BW
    Graeber, MB
    NEUROSURGERY, 2001, 48 (01) : 187 - 193
  • [25] 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
  • [26] 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
  • [27] BIOTINIDASE DEFICIENCY: A GENOTYPE-PHENOTYPE CORRELATION
    Daoud, Ghaleb
    Karam, Pascale
    MOLECULAR GENETICS AND METABOLISM, 2016, 117 (03) : 252 - 253
  • [28] Nephronophthisis: A review of genotype-phenotype correlation
    Luo, Fenglan
    Tao, Yu-Hong
    NEPHROLOGY, 2018, 23 (10) : 904 - 911
  • [29] 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
  • [30] Genotype-Phenotype Correlation in Trichilemmal Cysts
    Yousaf, Ahmed
    Tallman, Rachel
    Katzman, Steven
    Brady, Chad
    Fang, Wei
    Kolodney, Michael S.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2021, 141 (12) : 2983 - +
12345