• Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome)
• Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association
• Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'
• Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review
• Two brothers with facial anomalies, microcephaly, hypoplastic genitalia, and a failure of psychomotor development