Diagnosis of Proteus syndrome was correct.

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作者信息

Kirk Edwin P, Smith Janine M, Field Michael, Marshall Glenn M, Marsh Deborah J

出版信息

Am J Med Genet A. 2004 Oct 1;130A(2):214-5; author reply 216-7. doi: 10.1002/ajmg.a.30337.

DOI:10.1002/ajmg.a.30337

PMID:15372511

Abstract

摘要

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Diagnosis of Proteus syndrome was correct.

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引用本文的文献

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相似文献

Diagnosis of Proteus syndrome was correct.

Am J Med Genet A. 2004 Oct 1;130A(2):214-5; author reply 216-7. doi: 10.1002/ajmg.a.30337.

PTEN mutations and proteus syndrome.

Lancet. 2001 Dec 15;358(9298):2079-80. doi: 10.1016/S0140-6736(01)07110-0.

Proteus syndrome: misdiagnosis with PTEN mutations.

Am J Med Genet A. 2003 Nov 1;122A(4):323-4. doi: 10.1002/ajmg.a.20474.

PTEN mutations and proteus syndrome.

Lancet. 2001 Dec 15;358(9298):2079-80. doi: 10.1016/S0140-6736(01)07109-4.

PTEN mutations are uncommon in Proteus syndrome.

J Med Genet. 2001 Jul;38(7):480-1. doi: 10.1136/jmg.38.7.480.

Germline mutation of the tumour suppressor PTEN in Proteus syndrome.

J Med Genet. 2002 Dec;39(12):937-40. doi: 10.1136/jmg.39.12.937.

Neonatal Proteus syndrome?

Am J Med Genet. 2002 Oct 1;112(2):228-30. doi: 10.1002/ajmg.10650.

Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.

Lancet. 2001 Jul 21;358(9277):210-1. doi: 10.1016/s0140-6736(01)05412-5.

A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing.

J Mol Diagn. 2002 May;4(2):114-7. doi: 10.1016/S1525-1578(10)60690-3.

Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.

Hum Mol Genet. 2000 Mar 22;9(5):765-8. doi: 10.1093/hmg/9.5.765.

引用本文的文献

PTEN in Hereditary and Sporadic Cancer.

Cold Spring Harb Perspect Med. 2020 Apr 1;10(4):a036087. doi: 10.1101/cshperspect.a036087.

PTEN-opathies: from biological insights to evidence-based precision medicine.

J Clin Invest. 2019 Feb 1;129(2):452-464. doi: 10.1172/JCI121277. Epub 2019 Jan 7.

Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome.

BMJ Case Rep. 2016 Jun 29;2016:bcr2016215188. doi: 10.1136/bcr-2016-215188.