Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference19 articles.
1. Albano LM, Oliveira LA, Bertola DR, Mazzu JF, Kim CA: Omodysplasia: the first reported Brazilian case. Clinics (Sao Paulo) 62:531-534 (2007).
2. Allen NJ, Bennett ML, Foo LC, Wang GX, Chakraborty C, et al: Astrocyte glypicans 4 and 6 promote formation of excitatory synapses via GluA1 AMPA receptors. Nature 486:410-414 (2012).
3. Barrow M, Fitzsimmons JS: A new syndrome. Short limbs, abnormal facial appearance, and congenital heart defect. Am J Med Genet 18:431-433 (1984).
4. Baxova A, Maroteaux P, Barosova J, Netriova I: Parental consanguinity in two sibs with omodysplasia. Am J Med Genet 49:263-265 (1994).
5. Borochowitz Z, Barak M, Hershkowitz S: Familial congenital micromelic dysplasia with dislocation of radius and distinct face: a new skeletal dysplasia syndrome. Am J Med Genet 39:91-96 (1991).
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