Haploinsufficiency of Short Stature Homeobox Containing Gene: Clinical Signs and Anthropometric Measurements in Children

被引：0
|
作者：
Genoni, Giulia [1 ]
Monzani, Alice [1 ]
Castagno, Matteo [1 ]
Giordano, Mara [2 ]
Prodam, Flavia [1 ]
Bellone, Simonetta [1 ]
Bona, Gianni [1 ]
机构：
[1] Univ Piemonte Orientale, Dept Hlth Sci, Div Pediat, Novara, Italy
[2] Univ Piemonte Orientale, Dept Hlth Sci, Lab Human Genet, Novara, Italy
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2016年 / 86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：
P1-P818
引用
收藏
页码：453 / 453
页数：1
相关论文
共 50 条
  • [21] Short stature caused by SHOX gene haploinsufficiency:: from diagnosis to treatment
    Jorge, Alexander A. L.
    Nishi, Mirian Y.
    Funari, Mariana F. A.
    Souza, Silvia C.
    Arnhold, No J. P.
    Mendonca, Berenice B.
    ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, 2008, 52 (05) : 765 - 773
  • [22] IGF1 haploinsufficiency in children with short stature: a case series
    Staels, Willem
    Alev, Nuriya
    Maystadt, Isabelle
    Chivu, Olimpia
    De Schepper, Jean
    Heinrichs, Claudine
    Beckers, Dominique
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2021, 185 (02) : 323 - 332
  • [23] The Association Between Serum Zinc Levels and Anthropometric Measurements and Nutritional Indicators in Children With Idiopathic Short Stature
    Sugawara, Daisuke
    Makita, Eishi
    Matsuura, Misa
    Ichihashi, Ko
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2022, 14 (05)
  • [24] Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
    Grigelioniene, G
    Schoumans, J
    Neumeyer, L
    Ivarsson, SA
    Eklöf, O
    Enkvist, O
    Tordai, P
    Fosdal, I
    Myhre, AG
    Westphal, O
    Nilsson, NÖ
    Elfving, M
    Ellis, I
    Anderlid, BM
    Fransson, I
    Tapia-Paez, I
    Nordenskjöld, M
    Hagenäs, L
    Dumanski, JP
    HUMAN GENETICS, 2001, 109 (05) : 551 - 558
  • [25] Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
    Giedre Grigelioniene
    Jacqueline Schoumans
    Lo Neumeyer
    Sten Ivarsson
    Ole Eklöf
    Ove Enkvist
    Paul Tordai
    Inger Fosdal
    Anne Myhre
    Otto Westphal
    Nils Nilsson
    Maria Elfving
    Ian Ellis
    Britt-Marie Anderlid
    Ingegerd Fransson
    Isabel Tapia-Paez
    Magnus Nordenskjöld
    Lars Hagenäs
    Jan P. Dumanski
    Human Genetics, 2001, 109 : 551 - 558
  • [26] Isolated haploinsufficiency of exon 1 of the SHOX gene in a patient with idiopathic short stature
    Tan, Y. -M.
    Loke, K. -Y.
    JOURNAL OF CLINICAL PATHOLOGY, 2006, 59 (07) : 773 - 774
  • [27] Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature
    Binder, G
    Ranke, MB
    Martin, DD
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (10): : 4891 - 4896
  • [28] The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
    Clement-Jones, M
    Schiller, S
    Rao, E
    Blaschke, RJ
    Zuniga, A
    Zeller, R
    Robson, SC
    Binder, G
    Glass, I
    Strachan, T
    Lindsay, S
    Rappold, GA
    HUMAN MOLECULAR GENETICS, 2000, 9 (05) : 695 - 702
  • [29] Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome
    Adamson, KA
    Cross, I
    Batch, JA
    Rappold, GA
    Glass, IA
    Ball, SG
    CLINICAL ENDOCRINOLOGY, 2002, 56 (05) : 671 - 675
  • [30] Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency
    Ogata, T
    Inokuchi, M
    Ogawa, M
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2002, 147 (02) : 249 - 254
12345