Skeletal Diseases

Research

We investigate the causes of genetic disorders

Wir offer a wide range of human genetic diagnostic services

Patients and their families are our focus

We teach students of medicine and natural sciences

Osteogenesis imperfecta, dominant

Osteogenesis imperfecta, recessive

Osteoporosis with fractures, X-dominant

Juvenile/early-onset osteoporosis, dominant

Osteoporosis pseudoglioma (OPPG) syndrome, recessive

Osteopetrosis type 1, dominant

Syndromic osteogenesis imperfecta/Cole-Carpenter syndrome, dominant

Syndromic osteogenesis imperfecta/Cole-Carpenter syndrome, recessive

Hypophosphatasia, dominant/recessive

Bruck syndrome, recessive

Cranio-lenticulo-sutural dysplasia, recessive

Prof. Dr. Christian Netzer
Telephone +49 221 478-89586
Email christian.netzer@uk-koeln.de

Access the request form here.

Gene	OMIM	Method
PLS3	300131	Sequencing

Gene	OMIM	Method
LRP5	603506	Sequencing

Gene	OMIM	Method
LRP5	603506	Sequencing

Gene	OMIM	Method
P4HB	176790	Sequencing

Gene	OMIM	Method
SEC24D P3H1	607185 610339	Sequencing