Additional features of unique Primrose syndrome phenotype
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33955/fullpdf
Reference12 articles.
1. The Primrose syndrome with progressive neurological involvement and cerebral calcification;Battisti;J Neurol,2002
2. The syndrome of mental handicap, cataracts, muscle wasting and skeletal abnormalities: Report of a second case;Collacott;J Ment Defic Res,1986
3. Motor tics, stereotypies, and self-flagellation in Primrose syndrome;Dallal;Neurology,2010
4. Calcification of auricular cartilage;Gordon;Arch Intern Med,1964
5. Idiopathic bilateral auricular ossificans: A case report and review of the literature;High;Arch Pathol Lab Med,2004
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