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Article

Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.

The Tohoku journal of experimental medicine - 1 Jul 2005

Kawakami Takako, Mitsui Tetsuo, Kanai Masayo, Shirahata Emi, Sendo Dai, Kanno Miyako, Noro Mizuka, Endoh Mikiya, Hama Asahito, Tono Chikako, Ito Etsuro, Tsuchiya Shigeru, Igarashi Yutaka, Abukawa Daiki, Hayasaka Kiyoshi

Abstract excerpt

Shwachman-Diamond syndrome (SDS) is a rare hereditary disorder characterized by pancreatic exocrine insufficiency, bone marrow dysfunction and skeletal changes. Recently, the cause of SDS was identified as mutations of Shwachman-Bodian-Diamond syndrome gene (SBDS) and most mutations are caused by gene conversion between SBDS and its highly homologous pseudogene. Clinical variations especially in skeletal and bone...

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Identifiers

PMID: 15942154
DOI: 10.1620/tjem.206.253

Genes

SBDS
SDS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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