Junior doctors are required to make career decisions at an early stage in their postgraduate training. Trainees also feel inadequately prepared for the transition to consultant roles.An online questionnaire was …
A novel c.916C>A EDA gene pathogenic variant in a boy with X-Linked Hypohidrotic Ectodermal Dysplasia.
A 17-month old boy was referred to the genetic clinic in view of anodontia, hypohidrosis, scalp hypotrichosis, atrichia of the eyelashes, xerotic skin and a short columella. A diagnosis of …