WEN Xian-Hao,XIAO Jian-Wen,YU Jie et al. Pediatric Shwachman-diamond syndrome: report on 5 cases and literature review[J]. CJCP, 2013, 15(11): 970-974.
WEN Xian-Hao,XIAO Jian-Wen,YU Jie et al. Pediatric Shwachman-diamond syndrome: report on 5 cases and literature review[J]. CJCP, 2013, 15(11): 970-974.
Aggett PJ, Cavanagh NP, Matthew DJ, Pincott JR, Sutcliffe J, Harries JT. Shwachman's syndrome: a review of 21 cases[J]. Arch Dis Child, 1980, 55(5): 331-347.
[2]
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P. Shwachman-Diamond syndrome[J]. Musculoskelet Surg, 2012, 96(2): 81-88.
[3]
Farruggia P, Quarello P, Garelli E, Paolicchi O, Ruffo GB, Cuccia L, et al. The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation[J]. Pediatr Rep, 2012, 4(2): e25.
Kawakami T, Mitsui T, Kanai M, Shirahata E, Sendo D, Kanno M, et al. Genetic analysis of Shwachman-Diamond syndrome：phenotypic heterogeneity in patients carrying identical SBDS mutations[J]. J Exp Med, 2005, 206(3): 253-259.
[6]
Woloszynek JR, Rothbaum RJ, Rawls AS, Minx PJ, Wilson RK, Mason PJ, et al. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome[J]. Blood, 2004, 104(12): 3588-3590.
[7]
Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, et al. Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene[J]. Eur J Hum Genet, 2002, 10(4): 250-258.
[8]
Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome[J]. Nat Genet, 2003, 33(1): 97-101.
[9]
Burroughs L, Woolfrey A, Shimamura A. Shwachman-Diamond syndrome-a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment[J]. Hematol Oncol Clin North Am, 2009, 23(2): 233-248.
[10]
Dror Y, Freedman MH. Shwachman-Diamond syndrome: an inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment[J]. Blood, 1999, 94(9): 3048-3054.
[11]
Lesesve JF, Dugue F, Gregoire MJ, Witz F, Dror Y. Shwachman-Diamond syndrome with late-onset neutropenia and fatal acute myeloid leukaemia without maturation: a case report[J]. Eur J Haematol, 2003, 71(5): 393-395.
[12]
Hashmi SK, Allen C, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, et al. Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation[J]. Clin Genet, 2011, 79(5): 448-458.
Hill RE, Durie PR, Gaskin KJ, Davidson GP, Forstner GG. Steatorrhea and pancreatic insufficiency in Shwachman syndrome[J]. Gastroenterology, 1982, 83(1 Pt 1): 22-27.
[15]
Ip WF, Dupuis A, Ellis L, Beharry S, Morrison J, Stormon MO, et al. Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome[J]. J Pediatr, 2002, 141(2): 259-265.
[16]
Toiviainen-Salo S, Raade M, Durie PR, Ip W, Marttinen E, Savilahti E, et al. Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene[J]. J Pediatr, 2008, 152(3): 434-436.
[17]
Toiviainen-Salo S, Durie PR, Numminen K, Heikkila P, Marttinen E, Savilahti E, et al. The natural history of Shwachman-Diamond syndrome-associated liver disease from childhood to adulthood[J]. J Pediatr, 2009, 155(6): 807-811.
[18]
Toiviainen-Salo S, Mayranpaa MK, Durie PR, Richards N, Grynpas M, Ellis L, et al. Shwachman-Diamond syndrome is associated with low-turnover osteoporosis[J]. Bone, 2007, 41(6): 965-972.
[19]
Kerr EN, Ellis L, Dupuis A, Rommens JM, Durie PR. The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function[J]. J Pediatr, 2010, 156(3): 433-438.
[20]
Linden T, Ehlert K, Niemeyer CM, Fleischhack G, Jurgens H, Rossig C. Molecular diagnosis of Shwachman-Diamond syndrome in a child with incomplete clinical disease phenotype[J]. Pediatr Blood Cancer, 2010, 55(1): 177-179.
[21]
Nakashima E, Mabuchi A, Makita Y, Masuno M, Ohashi H, Nishimura G, et al. Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome[J]. Hum Genet, 2004, 114(4) : 345-348.
[22]
Bizzetto R, Bonfim C, Rocha V, Socie G, Locatelli F, Chan K, et al. Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia[J]. Haematologica, 2011, 96(1): 134-141.
