Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg200873.pdf
Reference23 articles.
1. Turkmen S, Demirhan O, Hoffmann K et al: Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. J Med Genet 2006; 43: 461–464.
2. Humphrey N, Skoyles JR, Keynes R : Human hand-walkers: five siblingswho never stood up. LSE 2005 CPNSS Discussion Paper, DP 77/05).
3. Hagberg B, Sanner G, Steen M : The dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment. Acta Paediatr Scand Suppl 1972; 226: 1–63.
4. Sanner G : The dysequilibrium syndrome. A genetic study. Neuropadiatrie 1973; 4: 403–413.
5. Schurig V, Orman AV, Bowen P : Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites. Am J Med Genet 1981; 9: 43–53.
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