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

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

Vreeburg, M., van Geel, M., van den Heuij, L. G. T., Steijlen, P. M., & van Steensel, M. A. M. (2011). Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion. Journal of the European Academy of Dermatology and Venereology, 25(5), 592-595. https://doi.org/10.1111/j.1468-3083.2010.03782.x

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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.}",

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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

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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

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KW - focal dermal hypoplasia

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KW - mosaicism

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KW - WNT

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JO - Journal of the European Academy of Dermatology and Venereology

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