Introduction: Achondroplasia is the most common bone dysplasia. It is caused by mutations in the FGFR3 gene, which is involved in regulation of proliferation and maturation of chondrocytes on the growth plates. Activating mutation results in impaired endochondral ossification and a wide range of symptoms: severe growth disorder with limb shortening, macrocephaly with risk of hydrocephalus, mid-facial dysplasia, sleep apnea, narrowing of the spinal canal, increased risk of respiratory complications, and airway inflammation. The current rapid technological development has led to a better understanding of the processes of epiphyseal growth cartilage, thus enabling the development of new drugs for the treatment of this disorder (modified CNP, s...
Achondroplasia is the most common form of skeletal dysplasia, resulting in disproportionate short st...
Introduction: Achondroplasia (ACH) is the most common form of skeletal dysplasia of genetic origin i...
Background: Achondroplasia is a skeletal dysplasia with extreme, disproportionate, short stature. Ai...
This study was undertaken to collect baseline growth parameters in children with achondroplasia who ...
Disease characteristics. Achondroplasia is characterized by abnormal bone growth that results in sho...
OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical...
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functi...
Recent studies of the fibroblast growth factorreceptor 3 (FGFR3) gene have established that achondro...
Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the...
Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the...
International audienceAchondroplasia is the most common form of human dwarfism. The molecular basis ...
Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the...
Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the...
To develop accurate weight for age charts for individuals with achondroplasia. These novel weight fo...
International audienceAchondroplasia is a rare genetic disorder resulting in short‐limb skeletal dys...
Achondroplasia is the most common form of skeletal dysplasia, resulting in disproportionate short st...
Introduction: Achondroplasia (ACH) is the most common form of skeletal dysplasia of genetic origin i...
Background: Achondroplasia is a skeletal dysplasia with extreme, disproportionate, short stature. Ai...
This study was undertaken to collect baseline growth parameters in children with achondroplasia who ...
Disease characteristics. Achondroplasia is characterized by abnormal bone growth that results in sho...
OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical...
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functi...
Recent studies of the fibroblast growth factorreceptor 3 (FGFR3) gene have established that achondro...
Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the...
Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the...
International audienceAchondroplasia is the most common form of human dwarfism. The molecular basis ...
Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the...
Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the...
To develop accurate weight for age charts for individuals with achondroplasia. These novel weight fo...
International audienceAchondroplasia is a rare genetic disorder resulting in short‐limb skeletal dys...
Achondroplasia is the most common form of skeletal dysplasia, resulting in disproportionate short st...
Introduction: Achondroplasia (ACH) is the most common form of skeletal dysplasia of genetic origin i...
Background: Achondroplasia is a skeletal dysplasia with extreme, disproportionate, short stature. Ai...