Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.

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Abstract

To investigate the range of clinical presentations for Shwachman-Diamond syndrome (SDS) with the long-term goal of improving diagnosis.

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Journal

Journal ID (iso-abbrev): J. Pediatr.

Title: The Journal of pediatrics

Publisher: Elsevier BV

ISSN (Electronic): 1097-6833

ISSN (Print): 0022-3476

Publication date (Electronic): Apr 2014

Volume: 164

Issue: 4

Affiliations

[1 ] Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.

[2 ] Department of Medicine, University of Washington, The Severe Chronic Neutropenia International Registry, Seattle, WA.

[3 ] Department of Medicine, University of Washington, Seattle, WA.

[4 ] Puget Sound Blood Center, Seattle, WA; Department of Pediatrics, University of Washington, Seattle, WA; Seattle Children's Hospital, Seattle, WA.

[5 ] Department of Pediatrics, University of Washington, Seattle, WA; Seattle Children's Hospital, Seattle, WA; Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA. Electronic address: ashimamu@fhcrc.org.

Article

Publisher Item ID: S0022-3476(13)01474-1 Mid ID: NIHMS543634

DOI: 10.1016/j.jpeds.2013.11.039

PMC ID: 4077327

PubMed ID: 24388329

SO-VID: b82bd3bc-373f-484b-b28d-62d3723d7c6c

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