A case of Larsen syndrome with severe cervical malformations.
B. Le Marec(Hôpital Pontchaillou), H Bracq, Margot Chapuis, Catherine Tréguier, S. Odent(CIC Rennes)
PubMed
January 1, 1994
Cited by 18
Related Papers
Mutation update for the <i>CSB</i> / <i>ERCC6</i> and <i>CSA</i> / <i>ERCC8</i> genes involved in Cockayne syndrome
|Human Mutation|2009|231
Perinatal‐lethal Gaucher disease
|American Journal of Medical Genetics Part A|2003|127
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects
|Human Molecular Genetics|2013|112