Molecular diagnosis of SHOX abnormalities in Leri-Weill dyschondrosteosis.

被引：0
|
作者：
Zinn, AR
Wei, F
Chen, H
Zhang, L
Marttila, P
Ross, JL
机构：
[1] Univ Texas, SW Med Sch, McDermott Ctr Human Growth & Dev, Dallas, TX USA
[2] Esoterix Endocrinol, Calabasas Hills, CA USA
[3] Thomas Jefferson Univ, Dept Pediat, Philadelphia, PA USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 04期
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：
2426
引用
收藏
页码：594 / 594
页数：1
相关论文
共 50 条
  • [41] Exudative Retinal Telangiectasia Associated With Leri-Weill Dyschondrosteosis
    Soares, Rebecca Russ
    Stem, Maxwell S.
    Yonekawa, Yoshihiro
    JAMA OPHTHALMOLOGY, 2021, 139 (08) : 914 - 915
  • [42] Report of a Novel SHOX Missense Variant in a Boy With short stature and His Mother With Leri-Weill Dyschondrosteosis
    Lucchetti, Laura
    Prontera, Paolo
    Mencarelli, Amedea
    Sallicandro, Ester
    Mencarelli, Annalisa
    Cofini, Marta
    Leonardi, Alberto
    Stangoni, Gabriela
    Penta, Laura
    Esposito, Susanna
    FRONTIERS IN ENDOCRINOLOGY, 2018, 9
  • [43] SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Leri-Weill dyschondrosteosis
    Hirschfeldova, K.
    Solc, R.
    Baxova, A.
    Zapletalova, J.
    Kebrdlova, V.
    Gaillyova, R.
    Prasilova, S.
    Soukalova, J.
    Mihalova, R.
    Lnenicka, P.
    Florianova, M.
    Stekrova, J.
    GENE, 2012, 491 (02) : 123 - 127
  • [44] Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature
    Bunyan, David J.
    Baffico, Maria
    Capone, Lucia
    Vannelli, Silvia
    Iughetti, Lorenzo
    Schmitt, Sebastien
    Taylor, Emma-Jane
    Herridge, Adam A.
    Shears, Deborah
    Forabosco, Antonino
    Coviello, Domenico A.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (04) : 949 - 957
  • [45] X/Y translocation in a family with Leri-Weill dyschondrosteosis
    Calabrese, G
    Fischetto, R
    Stuppia, L
    Capodiferro, F
    Mingarelli, R
    Causio, F
    Rocchi, M
    Rappold, GA
    Palka, G
    HUMAN GENETICS, 1999, 105 (04) : 367 - 368
  • [46] SYNDROMIC SHORT STATURE: SHOX GENE DISORDERS & LERI-WEILL DYSCHONDROSTEOSIS: A CASE STUDY AND NOVEL MUTATION
    Cooper, M.
    Hutchins, K.
    McGoey, R.
    Zambrano, R.
    Vargas, A.
    Lacassie, Y.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2011, 59 (02) : 441 - 441
  • [47] The Jumping SHOX Gene-Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis
    Kant, Sarina G.
    van der Kamp, Hetty J.
    Kriek, Marjolein
    Bakker, Egbert
    Bakker, Boudewijn
    Hoffer, Mariette J. V.
    van Bunderen, Patrick
    Losekoot, Monique
    Maas, Saskia M.
    Wit, Jan M.
    Rappold, Gudrun
    Breuning, Martijn H.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2011, 96 (02): : E356 - E359
  • [48] Identification of a novel mutation of the SHOX gene in a patient with Leri-Weill dyschondrosteosis accompanied by growth hormone deficiency
    Kang, Jaebeen
    Kim, Min-Ji
    Yoo, Sukdong
    Cheon, Chong Kun
    ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2024, 29 (03) : 201 - 203
  • [49] Leri Weill dyschondrosteosis caused by SHOX splicing mutation.
    Flanagan, SB
    Hyland, VJ
    Munns, C
    Hayes, M
    Vickers, D
    Rao, E
    Rappold, G
    Batch, JA
    Glass, IA
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 370 - 370
  • [50] Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Leri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)
    Benito-Sanz, S.
    Barroso, E.
    Heine-Suner, D.
    Hisado-Oliva, A.
    Romanelli, V.
    Rosell, J.
    Aragones, A.
    Caimari, M.
    Argente, J.
    Ross, J. L.
    Zinn, A. R.
    Gracia, R.
    Lapunzina, P.
    Campos-Barros, A.
    Heath, K. E.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2011, 96 (02): : E404 - E412
12345