Results 151 to 160 of about 6,534 (202)
Exploring adverse events associated with vosoritide monotherapy: Insights from the FDA Adverse Event Reporting System. [PDF]
PLoS OneLi X, Luo X, Liu F, Wang C, Li X, Yu H.
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Achondroplasia treatments in children aged 5 and older. [PDF]
Mol Cell PediatrZakheim E +5 more
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Linking shox/shox2 deficiency with fgfr3 gain-of-function and natriuretic peptides. [PDF]
Front Endocrinol (Lausanne)Hoffmann S +6 more
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Mitral Valve Repair in a Patient With Achondroplasia. [PDF]
JACC Case RepBradshaw A +4 more
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Vosoritide (Voxzogo) for Achondroplasia: A Review of Clinical and Real-World Evidence. [PDF]
CureusJones HL +7 more
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Best Practice & Research Clinical Rheumatology, 2008
Achondroplasia (MIM 100800) is the most common non-lethal skeletal dysplasia. Its incidence is between one in 10,000 and one in 30,000. The phenotype is characterized by rhizomelic disproportionate short stature, enlarged head, midface hypoplasia, short hands and lordotic lumbar spine, associated with normal cognitive development.
Geneviève, Baujat +4 more
exaly +6 more sources
Achondroplasia (MIM 100800) is the most common non-lethal skeletal dysplasia. Its incidence is between one in 10,000 and one in 30,000. The phenotype is characterized by rhizomelic disproportionate short stature, enlarged head, midface hypoplasia, short hands and lordotic lumbar spine, associated with normal cognitive development.
Geneviève, Baujat +4 more
exaly +6 more sources
The Lancet, 2007
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many
William A, Horton +2 more
openaire +4 more sources
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many
William A, Horton +2 more
openaire +4 more sources