在受影响的皮肤中检测到由PORCN基因的一种新型体细胞突变引起的镶嵌性局灶性真皮发育不全。 - Suppr

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超能文献

Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin.

作者信息

Sheu J, Divito S J, Hoffman E P, Frank N Y, Merola J F

机构信息

Harvard Medical School, Boston, MA, U.S.A.

Department of Dermatology, Brigham and Women's Hospital, Boston, MA, 02115, U.S.A.

出版信息

Br J Dermatol. 2015 Aug;173(2):568-70. doi: 10.1111/bjd.13649. Epub 2015 Jun 6.

DOI:10.1111/bjd.13649

PMID:25640089

Abstract

摘要

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相似文献

Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin.

Br J Dermatol. 2015 Aug;173(2):568-70. doi: 10.1111/bjd.13649. Epub 2015 Jun 6.

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J Eur Acad Dermatol Venereol. 2011 May;25(5):592-5. doi: 10.1111/j.1468-3083.2010.03782.x.

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