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Article

Case report: Adult phenotype of Mulvihill-Smith syndrome.

American journal of medical genetics. Part A - 1 Mar 2009

Yagihashi Tatsuhiko, Kato Motoichiro, Izumi Kosuke, Kosaki Rika, Yago Kaori, Tsubota Kazuo, Sato Yuji, Okubo Minoru, Watanabe Goro, Takahashi Takao, Kosaki Kenjiro

Abstract excerpt

Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, short stature, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated. We report a 28-year-old woman with Mulvihill-Smith syndrome, who had a solid pseudopapillary cystic tumor of her pancreas at age 17 years. Her...

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PMID: 19213035
DOI: 10.1002/ajmg.a.32551

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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