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Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene

✍ Scribed by Robert S. de Wijn; Charlène E.U. Oduber; Corstiaan C. Breugem; Marielle Alders; Raoul C.M. Hennekam; Chantal M.A.M. van der Horst

Book ID
116433457
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
735 KB
Volume
55
Category
Article
ISSN
1769-7212

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## Abstract Hereditary aceruloplasminemia (HA) is a rare inherited disease characterized by anemia, iron overload, diabetes, and neurodegeneration. HA is caused by the homozygous mutation of the ceruloplasmin (CP) gene. We report two siblings with markedly different phenotypes carrying a novel muta