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Phenotype and natural history in Marshall-Smith syndrome.

Abstract:

Marshall-Smith syndrome (MSS) is a distinctive entity of unknown etiology with fewer than 50 patients described in the medical literature to date. Through an International collaboration and use of an online wiki to facilitate data collection and sharing, we further delineate the phenotype and natural history of this syndrome. We present 15 new patients, the oldest being 30 years, provide an update on four previously published cases, and compare all patients with other patients reported in lit...

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Publisher copy:
10.1002/ajmg.a.33709

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Journal:
American journal of medical genetics. Part A
Volume:
152A
Issue:
11
Pages:
2714-2726
Publication date:
2010-11-05
DOI:
EISSN:
1552-4833
ISSN:
1552-4825
URN:
uuid:66074133-6a6f-4343-8b77-4ce8910f5c2d
Source identifiers:
94836
Local pid:
pubs:94836

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