A David

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

T. Meitinger, T. Strom, H. Lehrach, 1997, Human molecular genetics.

Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarization

G Lande, S. Demolombe, Y. Péréon, 2003, Neurology.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

R Pfundt, L Colleaux, N. de Leeuw, 2011, Journal of Medical Genetics.