SHOX deficiency is a frequent cause of short stature. The short stature homeobox-containing
gene resides in the telomeric PAR1 region on the short arm of both sex chromosomes and …

SHOX deficiency is the most frequent genetic growth disorder associated with isolated and
syndromic forms of short stature. Caused by mutations in the homeobox gene SHOX, its …

Background: Short stature affects approximately 2% of children, representing one of the
more frequent disorders for which clinical attention is sought during childhood. Despite …

The pacemaker is composed of specialized cardiomyocytes located within the sinoatrial
node (SAN), and is responsible for originating and regulating the heart beat. Recent …

Léri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized
by disproportionate short stature and a characteristic curving of the radius, known as the" …

SHOX (short stature homeobox-containing gene) mutations causing haploinsufficiency have
been reported in some individuals with idiopathic short stature and in many patients with …

Objective The frequency of SHOX mutations in children with idiopathic short stature (ISS)
has been found to be variable. We analysed the SHOX gene in children with ISS and Leri …

Mutations in the homeobox gene SHOX cause growth retardation and the skeletal
abnormalities associated with Léri-Weill, Langer, and Turner syndromes. Little is known …

Unlike the autosomes, recombination between the X chromosome and the Y chromosome is
often thought to be constrained to two small pseudoautosomal regions (PARs) at the tips of …

Abnormalities in the growth plate may lead to short stature and skeletal deformity including
Leri Weil syndrome, which has been shown to result from deletions or mutations in the …