Gabriela A Vasques

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CONTEXT SHOX mutations have been detected in approximately 70% of Léri-Weill dyschondrosteosis (LWD) and approximately 2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci. The recent identification of NPR2 mutations in ISS suggested that NPR2 mutations may also be involved in disproportionate short stature. (More)
CONTEXT GLI2 is a transcription factor downstream in Sonic Hedgehog signaling, acting early in ventral forebrain and pituitary development. GLI2 mutations were reported in patients with holoprosencephaly (HPE) and pituitary abnormalities. OBJECTIVE The aim was to report three novel frameshift/nonsense GLI2 mutations and the phenotypic variability in the(More)
The C-type natriuretic peptide (CNP) and its receptor (NPR-B) are recognized as important regulators of longitudinal growth. Animal models involving CNP or NPR-B genes (Nppc or Npr2) support the fundamental role of CNP/NPR-B for endochondral ossification. Studies with these animals allow the development of potential drug therapies for dwarfism.(More)
BACKGROUND Acromicric dysplasia (AD) and geleophysic dysplasia 2 (GD2) belong to the category of acromelic dysplasia syndromes, consisting of severe short stature, short hands and feet and skin thickening. Both can result from missense mutations in the transforming growth factor beta 5 domain of the fibrillin-1 gene (FBN1). METHODS Two patients (P1 age(More)
BACKGROUND Heterozygous loss-of-function mutations in the natriuretic peptide receptor B gene (NPR2) are responsible for short stature in patients without a distinct phenotype. Some of these patients have been treated with recombinant human growth hormone (rhGH) therapy with a variable response. CASE PRESENTATION The proband was a healthy boy who(More)
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