Publications:

Extensive blaschkoid macules and patches since birth.

Jaad Case Reports

Xu, Suzanne S; Ellis, Katherine T KT; Roy, Simon F SF; Johnston, Margaret S MS; Zubek, Amanda E AE

Publication Date: 2023-01

Variant appearance in text: PORCN: R124X

PubMed Link: 36505037

Variant Present in the following documents:

• Main text
• main.pdf

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Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature.

Clinical Case Reports

Frisk, Sofia S; Grandpeix-Guyodo, Catherine C; Popovic Silwerfeldt, Karin K; Hjartarson, Helgi Thor HT; Chatzianastassiou, Dimitris D; Magnusson, Irina I; Laurell, Tobias T; Nordgren, Ann A

Publication Date: 2018-11

Variant appearance in text: PORCN: 370C>T; Arg124*

PubMed Link: 30455901

Variant Present in the following documents:

• Main text
• CCR3-6-2103.pdf

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A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.

Bone Research

Maupin, Kevin A KA; Droscha, Casey J CJ; Williams, Bart O BO

Publication Date: 2013-03

Variant appearance in text: PORCN: Arg124X

PubMed Link: 26273492

Variant Present in the following documents:

• Main text

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Goltz syndrome and PORCN mosaicism.

International Journal Of Dermatology

Stevenson, David A DA; Chirpich, Meghan M; Contreras, Yvonne Y; Hanson, Heather H; Dent, Karin K

Publication Date: 2014-12

Variant appearance in text: PORCN: 370C>T

PubMed Link: 25040319

Variant Present in the following documents:

• Main text

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Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome).

Plos One

Liu, Wei W; Shaver, Timothy M TM; Balasa, Alfred A; Ljungberg, M Cecilia MC; Wang, Xiaoling X; Wen, Shu S; Nguyen, Hoang H; Van den Veyver, Ignatia B IB

Publication Date: 2012

Variant appearance in text: PORCN: 370C>T; R124X

PubMed Link: 22412863

Variant Present in the following documents:

• Main text
• pone.0032331.pdf

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