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.

Authors

J Sheu¹, S J Divito^{1

2}, E P Hoffman³, N Y Frank^{1

3}, J F Merola^{1

2}

Affiliations

¹ Harvard Medical School, Boston, MA, U.S.A.
² Department of Dermatology, Brigham and Women's Hospital, Boston, MA, 02115, U.S.A.
³ Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, 02115, U.S.A.

PMID: 25640089
DOI: 10.1111/bjd.13649

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Acyltransferases
Adult
Female
Focal Dermal Hypoplasia / genetics*
Frameshift Mutation / genetics*
Humans
Membrane Proteins / genetics*
Mosaicism*

Substances

Membrane Proteins
Acyltransferases
PORCN protein, human

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