Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

@article{Mkitie2004SkeletalPI,
  title={Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.},
  author={Outi M{\"a}kitie and Lynda Ellis and Peter R. Durie and Jeffrey A. Morrison and Etienne B. Sochett and Johanna M Rommens and William G. Cole},
  journal={Clinical genetics},
  year={2004},
  volume={65 2},
  pages={101-12}
}
Pancreatic exocrine and bone marrow dysfunctions are considered to be universal features of Shwachman-Diamond syndrome (SDS) whereas the associated skeletal dysplasia is variable and not consistently observed. The genetic defect in SDS has recently been identified; causative mutations have been shown in the SBDS gene. The aims of this study were to characterize the nature, frequency, and age-related changes of radiographic skeletal abnormalities in patients with SBDS mutations and to assess… CONTINUE READING
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