Hypochondroplasia
What's New
Last Posted: Feb 26, 2023
- Molecular genetic analysis and growth hormone response in patients with syndromic short stature.
Sun Huihui, et al. BMC medical genomics 2021 0 (1) 261 - Prevalence of Mutations in the FGFR3 Gene in Individuals with Idiopathic Short Stature.
Mamada Mitsukazu, et al. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2014 0 (2) 61-4 - Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.
Zhao Rong, et al. International journal of clinical and experimental medicine 2015 0 (10) 19241-9 - Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohort.
Pinto Graziella, et al. Hormone research in pædiatrics 2014 0 (6) 355-63 - FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
Xue Yuan, et al. Molecular genetics & genomic medicine 2014 11 (6) 497-503 - Hypochondroplasia
From NCATS Genetic and Rare Diseases Information Center - Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.
Almeida M R, et al. Clinical genetics 2009 2 (2) 150-6
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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