Lima, RosaCosta, ElísioRocha, CristinaVieira, EmíliaSantos, RosárioBarbot, JoséRocha, Herculano2008-02-182008-02-182005Lima, Rosa; Costa, Elísio; Rocha, Cristina; Vieira, Emília; Santos, Rosário; Barbot, José; Rocha, Herculano (2005). Molecular characterization of a portuguese patient with shwachman-diamond syndrome. Journal of Pediatric Gastroenterology and Nutrition. ISSN 0277-2116. 41:1 p. 115-1160277-2116http://hdl.handle.net/10198/486Shwachman-Diamond syndrome (SDS) a rare autosomal recessive disorder described first time 1964 (1), is characterized by the association of exocrine pancreatic and bone marrow dysfunction. Other systemic findings (skeletal, liver and psychomotor) or problems secondary to bone marrow dysfunction may also be detected (1–4). Intermittent or persistent neutropenia is the most common hematologic finding, but anemia and thrombocytopenia are present in approximately 40% of the patients (1–4). In 2002, fine mapping identified the locus for SDS in band 7q11. More recently Boocock et al. (5) identified 18 positional candidate genes in this locus and examined eight of them for occurrence SDS-associated changes. They found alterations only in a previously uncharacterised gene. This gene, designated SBDS (Shwachman- Bodian-Diamond syndrome), is composed of five exons spanning 7.9Kb. The authors also described a pseudogene (SBDSP) with 97% homology to SBDS (5).engSBDSShwachman-Diamond syndromejournal article