𝔖 Bobbio Scriptorium
✦   LIBER   ✦

PORCN mutations in focal dermal hypoplasia: coping with lethality

✍ Scribed by Dorothea Bornholdt; Frank Oeffner; Arne König; Rudolf Happle; Yasemin Alanay; Jeffrey Ascherman; Paul J. Benke; María del Carmen Boente; Ineke van der Burgt; Nicolas Chassaing; Ian Ellis; Christina Raissa I. Francisco; Patricia Della Giovanna; Ben Hamel; Cristina Has; Kaatje Heinelt; Andreas Janecke; Wolfgang Kastrup; Bart Loeys; Ingo Lohrisch; Carlo Marcelis; Yasmin Mehraein; Marie Eleanore O. Nicolas; Dana Pagliarini; Mauro Paradisi; Annalisa Patrizi; Maria Piccione; Hildegunde Piza-Katzer; Bettina Prager; Katrina Prescott; Juliane Strien; G. Eda Utine; Marc S. Zeller; Karl-Heinz Grzeschik

Book ID
102265678
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
232 KB
Volume
30
Category
Article
ISSN
1059-7794

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