Autosomal Recessive Primary Microcephaly
Last Posted: Mar 28, 2018
- Genetic heterogeneity in Pakistani microcephaly families revisited.
Ahmad I et al. Clinical genetics 2017 Jul 92(1) 62-68
- Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.
Li Hongda, et al. American journal of human genetics 2016 8 0. (2) 501-10
- Molecular genetics of human primary microcephaly: an overview.
Faheem Muhammad, et al. BMC medical genomics 2015 0 0. S4
- The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation.
Maghirang-Rodriguez Reycel, et al. American journal of medical genetics. Part A 2009 2 (4) 622-5
- Investigation of MCPH1 G37995C and ASPM A44871G polymorphisms and brain size in a healthy cohort.
Dobson-Stone C, et al. NeuroImage 2007 8 (2) 394-400
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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