Linear body growth is a multifactorial trait influenced by many environmental and intrinsic factors. Among the intrinsic determinants of body height, genetic and endocrine factors are considered to be the most important. Children with short stature are usually referred to paediatric endocrinology clinics and a significant proportion of these suffer from skeletal dysplasias. Hypochondroplasia and dyschondrosteosis (Léri-Weill syndrome) are characterised by disproportionate short stature. The phenotype in hypochondroplasia is mainly characterised by rhizomelic (proximal) shortening of the limbs, whereas dyschondrosteosis confers mesomelic short stature (shortening of the middle segment). An aberration of the forearm, called Madelung deformity...
Hypochondroplasia is a genetic disorder of dispro-portionate short stature. Linkage analysis provisi...
SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic caus...
Abstract. FGFR3 (fibroblast growth factor receptor 3) is a gene responsible for the most common form...
The growth of the human body depends from a complex interaction between nutritional, environmental a...
The growth of the human body depends from a complex interaction between nutritional, environmental a...
Short stature is generally defined as a condition in which the height of an individual is more than ...
The growth of the human body depends from a complex interaction between nutritional, environmental a...
Hypochondroplasia (MIM 146000) is a skeletal dysplasia characterized by disproportional dwarfism wit...
Human growth is influenced not only by environmental and internal factors but also by a large number...
ABSTRACT Short stature is a common feature, and frequently remains without a specific diagnosis afte...
Hypochondroplasia is an autosomal dominant genetic disorder due to a heterozygous pathogenic variant...
Recent studies of the fibroblast growth factorreceptor 3 (FGFR3) gene have established that achondro...
Background: Short stature affects approximately 2% of children, representing one of the more frequen...
Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases, underdiagno...
Introduction:Short stature homeobox-containing gene (SHOX) haploinsufficiency is associated with sho...
Hypochondroplasia is a genetic disorder of dispro-portionate short stature. Linkage analysis provisi...
SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic caus...
Abstract. FGFR3 (fibroblast growth factor receptor 3) is a gene responsible for the most common form...
The growth of the human body depends from a complex interaction between nutritional, environmental a...
The growth of the human body depends from a complex interaction between nutritional, environmental a...
Short stature is generally defined as a condition in which the height of an individual is more than ...
The growth of the human body depends from a complex interaction between nutritional, environmental a...
Hypochondroplasia (MIM 146000) is a skeletal dysplasia characterized by disproportional dwarfism wit...
Human growth is influenced not only by environmental and internal factors but also by a large number...
ABSTRACT Short stature is a common feature, and frequently remains without a specific diagnosis afte...
Hypochondroplasia is an autosomal dominant genetic disorder due to a heterozygous pathogenic variant...
Recent studies of the fibroblast growth factorreceptor 3 (FGFR3) gene have established that achondro...
Background: Short stature affects approximately 2% of children, representing one of the more frequen...
Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases, underdiagno...
Introduction:Short stature homeobox-containing gene (SHOX) haploinsufficiency is associated with sho...
Hypochondroplasia is a genetic disorder of dispro-portionate short stature. Linkage analysis provisi...
SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic caus...
Abstract. FGFR3 (fibroblast growth factor receptor 3) is a gene responsible for the most common form...