Arthrogryposis Multiplex Congenita
Last Posted: Aug 10, 2019
- The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Muys Joke, et al. Prenatal diagnosis 2018 0 (13) 1120-1128
- The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Muys Joke et al. Prenatal diagnosis 2018 Oct
- Genetics of neuromuscular fetal akinesia in the genomics era.
Beecroft Sarah Jane et al. Journal of medical genetics 2018 Jun
- Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience.
Karadima Georgia, et al. Journal of the peripheral nervous system : JPNS 2015 6 (2) 79-85
- Targeted carrier screening for four recessive disorders: High detection rate within a founder population.
- Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
Weymouth Katelyn S, et al. American journal of medical genetics. Part A 2011 9 (9) 2170-9
- Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans.
Putku Margus, et al. Human mutation 2011 7 (7) 806-14
- Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
Gurnett Christina A, et al. Clinical orthopaedics and related research 2009 5 (5) 1195-200
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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