Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).

Author:

Masuno M,Imaizumi K,Nishimura G,Nakamura M,Saito I,Akagi K,Kuroki Y

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. The syndrome of pancreatic insufficiency and bone marrow dysfunction;Shwachman, H.; Diamond, L.K.; Oski, F.A.; Khaw, K.T.;J Pediatr,1964

2. Shwachman's syndrome: a review of 21 cases;Aggett, P.J.; Cavanagh, N.P.C.; Matthew, D.J.; Pincott, JR, Sutcliffe; J, Harries; J.T.;Arch Dis Child,1980

3. Psychological characteristics of children with Shwachman syndrome;Kent, A.; Murphy, G.H.; Milla, P.;Arch Dis Child,1990

4. High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families;Sulisalo, T.; Francomano, C.A.; Sistonen, P.;Genomics,1994

5. Cloning of cDNAs for Fanconi's anaemia by functional complementation;Strathdee, C.A.; Gavish, H.; Shannon, W.R.; Buchwald, M.;Nature,1992

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