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The role of the SHOX gene in the development of short stature: an overview of clinical and molecular evaluation
(Research Trends, 2016-12)
SHOX gene (short stature homeobox-containing gene) deficiency is related to a diversity of clinical conditions such as Leri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature, all characterized by growth ...
Estudo do gene SHOX em pacientes com baixa estatura associada ou não a malformações esqueléticas encaminhadas com suspeita clínica da síndrome de Turner
(Universidade Federal de Pernambuco, 2015)
Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)
SHOX is exclusively expressed in the developing distal limb bones of human embryos and in the first and second pharyngeal arches. It works as a promoter for linear growth and as a repressor of growth plate fusion. It was ...
An illustrative case of Leri-Weill dyschondrosteosis
(Soc Brasil GeneticaRibeirao PretBrasil, 2008)
Trisomy of the short stature homeobox-containing gene (SHOX) due to duplication/deletion of the X chomosome: Clinical implications on the stature
(Karger, 2010-10)
Background: The karyotypes of 2 patients with abnormal stature and different phenotypes revealed one similar structural abnormality in the X chromosome by conventional cytogenetic studies and fluorescence in situ hybridization ...
Usefulness of MLPA in the detection of SHOX deletions
(ELSEVIER SCIENCE BV, 2010)
SHOX haploinsufficiency causes a wide spectrum of short stature phenotypes, such as Leri-Weill dyschondrosteosis (LWD) and disproportionate short stature (DSS). SHOX deletions are responsible for approximately two thirds ...
SHOX duplication and tall stature in a patient with Xq deletion and vascular disease
(Hindawi, 2019-06)
The anomalies of X chromosome are classified as numerical or structural. Concomitant structural anomalies in this chromosomethat associate partial loss of its long arm with duplications in its short arm are uncommon. Only ...