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Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome

โœ Scribed by C Palka; R Giuliani; F Brancati; A Mohn; A Di Muzio; O Calabrese; A Huebner; D De Grandis; F Chiarelli; A Ferlini; L Stuppia

Book ID
110888958
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
607 KB
Volume
77
Category
Article
ISSN
0009-9163

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## Communicated by Sergio Ottolenghi Crigler-Najjar syndrome types I and II (CN1 and CN2) are usually inherited as autosomal recessive conditions and are characterized by non-hemolytic unconjugated hyperbilirubinaemia. CN1 is the most severe form, associated with the absence of hepatic bilirubin-u