Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.

Autor: Nampoothiri, Sheela, Elcioglu, Nursel H., Koca, Suleyman S., Yesodharan, Dhanya, KK, Chandrababu, Krishnan V, Vinod, Bhat, Meenakshi, Mohandas Nair K, Radhakrishnan, Natasha, Kappanayil, Mahesh, Sheth, Jayesh J., Alves, Sandra, Coutinho, Francisca, Friez, Michael J., Pauli, Richard M., Unger, Sheila, Superti-Furga, Andrea, Leroy, Jules G., Cathey, Sara S.
Zdroj: Clinical Dysmorphology; Jan2019, Vol. 28 Issue 1, p7-16, 10p
Databáze: Complementary Index