The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.

Autor: Iqbal, Muddassar, Muhammad, Niaz, Ali, Sheikh A., Kostjukovits, Svetlana, Mäkitie, Outi, Naz, Sadaf
Zdroj: Clinical Dysmorphology; Apr2017, Vol. 26 Issue 2, p121-123, 3p, 1 Diagram
Databáze: Complementary Index