LERI-WEILL DYSCHONDROSTEOSIS SYNDROME WITH A FUNCTIONAL PARATHYROID ADENOMA

被引:0
|
作者
DONNET, A
QUINSAT, D
BOUCHACOURT, M
CHERIF, AA
KHALIL, R
机构
来源
SEMAINE DES HOPITAUX | 1989年 / 65卷 / 34期
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:2118 / 2119
页数:2
相关论文
共 50 条
  • [41] Radiological signs of Leri-Weill dyschondrosteosis present in the A170P carrier
    Heath, Karen E.
    JOURNAL OF CLINICAL PATHOLOGY, 2012, 65 (10) : 962 - 962
  • [42] Radiotriquetral Ligament in Madelung's Deformity Associated with Leri-Weill's Dyschondrosteosis
    De Leucio, Alessandro
    Castelein, Sybille
    Bellemans, Michel
    Simoni, Paolo
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2020, 12 (02)
  • [43] SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis:: frequency and phenotypic variability
    Jorge, Alexander A. L.
    Souza, Silvia C.
    Nishi, Miriam Y.
    Billerbeck, Ana E.
    Liborio, Debora C. C.
    Kim, Chong A.
    Arnhold, Ivo J. P.
    Mendonca, Berenice B.
    CLINICAL ENDOCRINOLOGY, 2007, 66 (01) : 130 - 135
  • [44] Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia
    Ross, JL
    Bellus, G
    Scott, CI
    Abboudi, J
    Grigelioniene, G
    Zinn, AR
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 116A (01): : 61 - 65
  • [45] Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant
    Vodopiutz, Julia
    Steurer, Lisa-Maria
    Haufler, Florentina
    Laccone, Franco
    Garczarczyk-Asim, Dorota
    Hilkenmeier, Matthias
    Steinbauer, Philipp
    Janecke, Andreas R.
    GENES, 2023, 14 (04)
  • [46] Leri-Weill Syndrome Phenotype with Atypical Cytogenetic Finding
    Mladenov, Vilhelm
    Iotova, Violeta
    Angelova, Lydmila
    Stoyanova, Milena
    Bogdanova, Viktoria
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 473 - 473
  • [47] Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome
    Schiller, S
    Spranger, S
    Schechinger, B
    Fukami, M
    Merker, S
    Drop, SLS
    Tröger, J
    Knoblauch, H
    Kunze, J
    Seidel, J
    Rappold, GA
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (01) : 54 - 62
  • [48] Langer mesomelic dysplasia and Leri-Weill dyschondrosteosis - novel SHOX mutations and clinical phenotypic spectrum
    Shears, D
    Guillen-Navarro, E
    Sempere-Miralles, M
    Domingo-Jimenez, R
    Scambler, PJ
    Winter, RM
    JOURNAL OF MEDICAL GENETICS, 2001, 38 : S36 - S36
  • [49] Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis
    Palka, G
    Stuppia, L
    Franchi, PG
    Chiarelli, F
    Fischetto, R
    Borrelli, P
    Giannotti, A
    Fioretti, G
    Rinaldi, MM
    Mingarelli, R
    Rappold, GA
    Calabrese, G
    CLINICAL GENETICS, 2000, 57 (06) : 449 - 453
  • [50] Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Leri-Weill dyschondrosteosis
    Fukami, Maki
    Dateki, Sumito
    Kato, Fumiko
    Hasegawa, Yukihiro
    Mochizuki, Hiroshi
    Horikawa, Reiko
    Ogata, Tsutomu
    JOURNAL OF HUMAN GENETICS, 2008, 53 (05) : 454 - 459