V. Lunzer

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.

H. Prokisch, W. Yue, S. Banka, 2014, Molecular genetics and metabolism.

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

B. Ertl-Wagner, H. Bolz, E. Boltshauser, 2016, European journal of medical genetics.