I. Desguerres

Peripheral neuropathy and inborn errors of metabolism in adults

F. Sedel, O. Dubourg, O. Lyon-Caen, 2007, Journal of Inherited Metabolic Disease.

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Colin A. Johnson, M. Huynen, D. Birnbaum, 2017, Journal of Medical Genetics.

Hypomelanosis of Ito and brain abnormalities: MRI findings and literature review

C. Adamsbaum, G. Ponsot, G. Kalifa, 1996, Pediatric Radiology.

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

D. Lacombe, L. Pasquier, M. Gonzalès, 2013, European journal of medical genetics.

Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?

A. Mégarbané, R. Nabbout, V. Delague, 2000, American journal of medical genetics.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

I. Gut, M. Bayés, J. Melki, 2014, Human molecular genetics.

P4.36 Upper limb evaluation in non-ambulatory patients with neuromuscular disorders

L. Servais, B. Estournet, T. Voit, 2010, Neuromuscular Disorders.