Minimum Age: 4
Healthy Volunteers: Accepts Healthy Volunteers
- INCLUSION CRITERIA:
- On referral, subjects will be considered for inclusion in the study:
If they have clinical documentation of typical features of XP, XP/CS, CS or TTD, XP/TTD or other overlap syndromes or
If they have laboratory documentation of defective DNA repair or
If they have some suggestive clinical features and are willing to participate in the study or
if they are first degree relatives or other family members of patients with XP, XP/CS, CS, TTD, XP/TTD or other overlap syndromes
if they are healthy volunteers of age 1 year and above (including NIH employees) willing to donate blood, skin, buccal cells, or hair. Healthy volunteer children will not have skin biopsies performed if they are age 12 years or younger.
- Patients or legally authorized representatives must provide informed consent.
Inability or unwillingness to provide tissue (skin, blood, buccal cells or hair) for laboratory studies.
positive pregnancy test in healthy volunteers