Catalog

Rothmund-Thomson syndrome type 1

No MMS code

Link to WHO Definition

Rothmund-Thomson syndrome type 1 – http://id.who.int/icd/entity/717855330

Rothmund-Thomson syndrome type 1 differs from Rothmund-Thomson syndrome type 2 in that it is not associated with mutations in the RECQL4 gene or with an increased risk of osteosarcoma and squamous cell carcinoma.