Mosaic focal dermal hypoplasia caused by a novel somatic mutation inPORCNdetected in affected skin
Author:
Affiliation:
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
Publisher
Wiley
Subject
Dermatology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.13649
Reference15 articles.
1. PORCNmutations in focal dermal hypoplasia: coping with lethality
2. Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
3. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
4. PORCN Mutations and Variants Identified in Patients with Focal Dermal Hypoplasia Through Diagnostic Gene Sequencing
5. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
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2. Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia;British Journal of Dermatology;2018-09-30
3. Fokale dermale Hypoplasie als Mosaikläsion oder doch eine Anetodermie?;Aktuelle Dermatologie;2018-06-25
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