- 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...
Expand abstract - 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:
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1552-4833
- ISSN:
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1552-4825
- URN:
-
uuid:66074133-6a6f-4343-8b77-4ce8910f5c2d
- Source identifiers:
-
94836
- Local pid:
- pubs:94836
- Copyright date:
- 2010
Journal article
Phenotype and natural history in Marshall-Smith syndrome.
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