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Copy number variants in patients with short stature
(Nature Publishing Group, 2014)
Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about ...
Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature
(Wiley, 2015)
Based on the observation of reduced stature
in relatives of patients with acromesomelic dysplasia,
Maroteaux type (AMDM), caused by homozygous or
compound heterozygous mutations in natriuretic peptide
receptor-B gene ...
An illustrative case of Leri-Weill dyschondrosteosis
(Soc Brasil GeneticaRibeirao PretBrasil, 2008)
Short stature and gestational diabetes in Brazil
(2000)
Aims/hypothesis. To examine the association between maternal stature and gestational diabetes mellitus.Methods. We studied a sample of 5564 consecutive Brazilian women 20 or more years old, who were pregnant for approximately ...
Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System
(Karger, 2013-12)
Background: In acid-labile subunit (ALS)-deficient families, heterozygous carriers of IGFALS gene mutations are frequently shorter than their wild-type relatives, suggesting that IGFALS haploinsufficiency could result in ...
SED-brachydactyly and distinctive speech: Report of a new familial case
(2011-12-01)
Background: Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS) is a syndrome characterized by short stature, disproportionately short limbs, peculiar face, thick and abundant hair, high-pitched and ...
SED-brachydactyly and distinctive speech: Report of a new familial case
(2011-12-01)
Background: Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS) is a syndrome characterized by short stature, disproportionately short limbs, peculiar face, thick and abundant hair, high-pitched and ...
Activating mutations of STAT3: Impact on human growth
(Elsevier Ireland, 2020-12)
The signal transducer and activator of transcription (STAT) 3 is the most ubiquitous member of the STAT family and fulfills fundamental functions in immune and non-immune cells. Mutations in the STAT3 gene lead to different ...
Follow-up of children and adolescents with short stature: the importance of the growth rate
(Associação Paulista de Medicina - APM, 2005-05-01)
CONTEXT AND OBJECTIVE: Short stature is defined as a height of more than two standard deviations below the average for a given age and sex in a reference population. The objective was to describe follow-up conducted among ...