𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel PORCN mutations in focal dermal hypoplasia

✍ Scribed by G Froyen; K Govaerts; H Van Esch; J Verbeeck; M-L Tuomi; H Heikkilä; S Torniainen; K Devriendt; J-P Fryns; P Marynen; I Järvelä; S Ala-Mello

Book ID
110888863
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
808 KB
Volume
76
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

PORCN mutations in focal dermal hypoplas
PORCN mutations in focal dermal hypoplasia: coping with lethality
✍ Dorothea Bornholdt; Frank Oeffner; Arne König; Rudolf Happle; Yasemin Alanay; Je 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 348 KB

The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrel