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Anesthetic management in a child with Diamond-Blackfan anemia

โœ Scribed by Kaan Katircioglu; Nilgun Ozturk Kavrut; Murat Y Ozkalkanli; Serdar Savaci


Book ID
109030504
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
91 KB
Volume
18
Category
Article
ISSN
1155-5645

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RPS19 mutations in patients with Diamond
โœ Maria Francesca Campagnoli; Ugo Ramenghi; Marta Armiraglio; Paola Quarello; Eman ๐Ÿ“‚ Article ๐Ÿ“… 2008 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 283 KB

Diamond-Blackfan anemia (DBA) is an inherited disease characterized by pure erythroid aplasia. Thirty percent (30%) of patients display malformations, especially of the hands, face, heart, and urogenital tract. DBA has an autosomal dominant pattern of inheritance. De novo mutations are common and fa