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Association between phenotype and genotype in carriers of haemophilia A

✍ Scribed by W. MIESBACH; S. ALESCI; C. GEISEN; J. OLDENBURG


Book ID
108775652
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
142 KB
Volume
17
Category
Article
ISSN
1351-8216

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## Abstract ## BACKGROUND This report describes the sixth case of an unusual association: Down syndrome with achondroplasia. It also analyzes the effects of both of these disorders on patient phenotype. ## METHODS A male infant was evaluated for Down syndrome. His appearance also suggested a dia