Multiplex Ligation-dependent Probe Amplification (MLPA) assay is a recently developed
technique able to evidence variations in the copy number of several human genes. Due to …

The fast technological development, particularly single nucleotide polymorphism array, array-
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …

Poziom B Dane pochodzące z jednej randomizowanej próby klinicznej lub dużych badań
nierandomizowanych Poziom C Uzgodniona opinia ekspertów i/lub dane pochodzące z …

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 …

Background—The risk for aortic dissection is increased among relatively young women with
Turner syndrome (TS). It is unknown whether aortic dilatation precedes acute aortic …

Purpose Short stature is a common condition of great concern to patients and their families.
Mostly genetic in origin, the underlying cause often remains elusive due to clinical and …

Context: Genetics plays a major role in determining an individual's height. Although there
are many monogenic disorders that lead to perturbations in growth and result in short …

Idiopathic short stature is a condition in which the height of the individual is more than 2 SD
below the corresponding mean height for a given age, sex and population, in whom no …

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

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 …