Molecular characterization of a Portuguese patient with Shwachman-Diamond syndrome

Journal of Pediatric Gastroenterology and Nutrition

Volumn 41, Issue 1, 2005, Pages 115-116

  Lima, Rosa M ^a   Costa, Elísio ^a   Rocha, Cristina ^a   Vieira, Emília ^b   Dos Santos, Rosário ^b   Barbot, José ^a   Rocha, Herculano ^a  

^a HOSPITAL MARIA PIA   (Portugal)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MOLECULAR GENETICS; PORTUGAL; PORTUGUESE; PRIORITY JOURNAL; SHWACHMAN SYNDROME;

BONE DISEASES, DEVELOPMENTAL; CHILD, PRESCHOOL; EXOCRINE PANCREATIC INSUFFICIENCY; EXONS; FAILURE TO THRIVE; GENES, RECESSIVE; GROWTH DISORDERS; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PORTUGAL; SYNDROME;

EID: 22044454090     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.MPG.0000155184.61625.FC     Document Type: Article

References (7)

1. Shwachman H, Diamond LK, Oski FA, Khaw K. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr 1964;65:645-63.
2. Wilschanski M, Hoeven E, Phillips J, Shuckett B, Durie P. Shwachman-Diamond syndrome presenting as hepatosplenomegaly. J Pediatr Gastroenterol Nutr 1994;19:111-3.
3. Mack DR, Forstner GG, Wilschanski M, Freedman MH, Durie P. Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology 1996;111:1593-602.
4. Ginzberg H, Shin J, Ellis L, et al. Shuwachman syndrome: Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 1999;135:81-8.
5. Boocock GRB, Morrison JA, Popovic M, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 2003;33:97-101.
6. Nakashima E, Mabuchi A, Makita Y, et al. Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. Hum Genet 2004;114:345-8.
7. Makitie O, Ellis L, Durie PR, et al. Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations is SBDS. Clin Genet 2004;65:101-12.