230 Early frameshift mutation in KRT14 cause a heterogeneous phenotype in a family with Naegeli-Franceschetti-Jadassohn syndrome

Autor: Burger, B., Imahorn, E., Wariwoda, H., Spoerri, I., Itin, P.
Zdroj: In Journal of Investigative Dermatology October 2017 137(10) Supplement 2:S232-S232
Databáze: ScienceDirect