Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion

M. Vreeburg; M. van Geel; L. G. T. van den Heuij; P. M. Steijlen; M. A. M. van Steensel

doi:10.1111/j.1468-3083.2010.03782.x

Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion

M. Vreeburg, M. van Geel, L. G. T. van den Heuij, P. M. Steijlen, M. A. M. van Steensel^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	592-595
Journal	Journal of the European Academy of Dermatology and Venereology
Volume	25
Issue number	5
DOIs	https://doi.org/10.1111/j.1468-3083.2010.03782.x
Publication status	Published - May 2011

Keywords

focal dermal hypoplasia
Goltz
mosaicism
PORCN
WNT

Access to Document

10.1111/j.1468-3083.2010.03782.x

Cite this

@article{3e9c45bb90614fa8b2b99c73527ac6d6,

title = "Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion",

keywords = "focal dermal hypoplasia, Goltz, mosaicism, PORCN, WNT",

author = "M. Vreeburg and {van Geel}, M. and {van den Heuij}, {L. G. T.} and Steijlen, {P. M.} and {van Steensel}, {M. A. M.}",

year = "2011",

month = may,

doi = "10.1111/j.1468-3083.2010.03782.x",

language = "English",

volume = "25",

pages = "592--595",

journal = "Journal of the European Academy of Dermatology and Venereology",

issn = "0926-9959",

publisher = "Wiley",

number = "5",

}

Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion. / Vreeburg, M.; van Geel, M.; van den Heuij, L. G. T.; Steijlen, P. M.; van Steensel, M. A. M.

In: Journal of the European Academy of Dermatology and Venereology, Vol. 25, No. 5, 05.2011, p. 592-595.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion

AU - Vreeburg, M.

AU - van Geel, M.

AU - van den Heuij, L. G. T.

AU - Steijlen, P. M.

AU - van Steensel, M. A. M.

PY - 2011/5

Y1 - 2011/5

KW - focal dermal hypoplasia

KW - Goltz

KW - mosaicism

KW - PORCN

KW - WNT

U2 - 10.1111/j.1468-3083.2010.03782.x

DO - 10.1111/j.1468-3083.2010.03782.x

M3 - Article

C2 - 20626533

VL - 25

SP - 592

EP - 595

JO - Journal of the European Academy of Dermatology and Venereology

JF - Journal of the European Academy of Dermatology and Venereology

SN - 0926-9959

IS - 5

ER -