Although we have collected clinical data of patients with LMNB2 variants, the full clinical spectrum of these mutations is still not completely known.
The overall aims of our research are:
• to identify additional patients with mutations in LMNB2.
• to characterize the clinical spectrum.
• to understand why the recessive and dominant LMNB2 syndromes are associated with different clinical (particularly neurological) features.
For the clinical studies we request (1) clinical and genetic information and/or (2) photographs to obtain a better insight into the clinical variability of LMNB2 mutations.
Clinicians can submit clinical data directly into the database.
Instructions for the clinician involved:
Please request written consent for the use and storage of medical information with or without photographs.
LMNB2