Fokale dermale Hypoplasie durch pathogene Variante im PORCN-Gen in postzygotischer, unilateraler Mosaik-Konstellation
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00105-024-05308-9.pdf
Reference12 articles.
1. Grzeschik KH, Bornholdt D, Oeffner F et al (2007) Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet 39:833–835
2. Happle R (2016) Goltz syndrome and PORCN: a view from Europe. Am J Med Genet C Semin Med Genet 172(1):21–32
3. Wang X, Reid-Sutton V, Omar-Peraza-Lianes J et al (2007) Mutations in x‑linked PORCN, a putative regulator of Wnt signalling, cause focal dermal hypoplasia. Nat Genet 39:820–821
4. Giehl KA (2016) Fokale dermale Hypoplasie (Goltz-Gorlin-Syndrom), Jetzt kennen wir die Ursache. Hautarzt 67:583–585
5. Heinz L, Bourrat E, Vabres P, Thevenon J, Hotz A, Hörer S, Küsel J, Zimmer AD, Alter S, Happle R, Fischer J (2019) Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia. Br J Dermatol 180(3):657–661
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