News
Skeletal dysplasia, severe immune deficiency (presenting in the newborn as Omenn syndrome), and developmental delay: this newly recognized condition is caused by mutations in EXTL3, an enzyme responsible for the synthesis of heparan sulfate.
Our Team
The Team is based at the Service de Médecine Génétique of the University Hospital in Lausanne, Switzerland.
The regular mail address is:
Division of Genetic Medicine
Lausanne University Hospital (CHUV)
CHUV, Av. Pierre-Decker 5,
1011 Lausanne,
Switzerland.
Secretariat Phone +41-21-314-3200
Email gilles.eggen@chuv.ch
Prof. Luisa Bonafé
MD, PhD, Professor
Head of the Center for Molecular Diseases
Phone +41-21-314-3480
email: luisa.bonafe@chuv.ch
PD Dr. Sheila Unger
Medecin-adjoint, Privat-Docent and MER (Uni Lausanne), BSc, MD, FRCP(C)
Clinical Geneticist CCMG (Canada), ABMG (USA), Fachärztin für Humangenetik (BRD)
Diagnostic Coordinator ESDN
Phone +41-21-314-9568
email: sheila.unger@chuv.ch
Dr. Ana Belinda Campos-Xavier
PhD, Director Skeletal Dysplasia laboratory
Phone +41-21-314-9568
email: belinda.xavier@chuv.ch
Dr. Lauréane Mittaz-Crettol
PD Dr. Diana Ballhausen
Privat-Docent and MER (Uni Lausanne), MD, Pediatrician FMH
Specialized in Metabolic and Genetic Diseases
Phone +41-21-314 34 82
email: diana.ballhausen@chuv.ch
Carole Chiesa Buzzi
Laboratory Technician for Skeletal Dysplasia
Phone +41-21-314-5351
email: carole.chiesa@chuv.ch
Previous page: Home - Genetic Disorders of the Skeleton
Next page: Useful Links