Shwachman-Diamond syndrome: Difference between revisions

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* [http://www.shwachman-diamondsupport.org/ Shwachman-Diamond Support UK]
* [http://www.shwachman-diamondsupport.org/ Shwachman-Diamond Support UK]
* [http://www.shwachman.de/ Shwachman-Diamond Syndrome Germany]
* [http://www.shwachman.de/ Shwachman-Diamond Syndrome Germany]
* [http://members.home.nl/christel23/ Shwachman-Diamond Syndrome Netherlands]
* [http://www.sickkids.ca/molecular/section.asp?s=Molecular+Genetics+Laboratory&sID=7322&ss=What%27s+New&ssID=7323&sss=Shwachman%2DDiamond+Syndrome+Testing&sssID=8212 SDS Genetic Testing at The Hospital for Sick Children, Toronto]
* [http://www.genedx.com/services/dis_shw.php Genetic Testing at GeneDx]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260400 Shwachman-Diamond syndrome (OMIM)]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260400 Shwachman-Diamond syndrome (OMIM)]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250250 Cartilage-hair hypoplasia (OMIM)]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250250 Cartilage-hair hypoplasia (OMIM)]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105650 Diamond-Blackfan anemia (OMIM)]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105650 Diamond-Blackfan anemia (OMIM)]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305000 X-linked dyskeratosis congenita (OMIM)]
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305000 X-linked dyskeratosis congenita (OMIM)]
* [http://www.ambrygen.com/ts/ts_sd.aspx/ SDS Gentic testing at Ambry Genetics]




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[[Category:Autosomal recessive disorders]]
[[Category:Autosomal recessive disorders]]


 
<br>
[[it:Sindrome di Shwachman-Diamond]]
[[it:Sindrome di Shwachman-Diamond]]
[[fi:Shwachman-Diamondin oireyhtymä]]
[[fi:Shwachman-Diamondin oireyhtymä]]

Revision as of 17:32, 21 September 2012

For patient information click here

Shwachman-Diamond syndrome
OMIM 260400
DiseasesDB 11894

Shwachman-Diamond syndrome Microchapters

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Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Shwachman-Diamond Syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

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Treatment

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Surgery

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

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Risk calculators and risk factors for Shwachman-Diamond syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Congenital lipomatosis of pancreas;

Diagnosis

History

See also

External links


it:Sindrome di Shwachman-Diamond fi:Shwachman-Diamondin oireyhtymä


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