Rhizomelic Chondrodysplasia Punctata Type 1
What's New
Last Posted: Feb 17, 2023
- A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1.
Fallatah Wedad, et al. Frontiers in cell and developmental biology 2022 0 886316 - Targeted carrier screening for four recessive disorders: High detection rate within a founder population.
- Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.
Ro MyungJa, et al. Journal of child neurology 2012 10 (10) 1270-5 - Rhizomelic chondrodysplasia punctata type 1
From NCATS Genetic and Rare Diseases Information Center
Content Summary
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
- Page last updated:May 01, 2024
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