Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ...

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and ...

... complementing) GTF2H RAD25 TFIIH 89 kDa subunit TFIIH basal transcription factor complex 89 kDa subunit TFIIH basal transcription factor complex helicase XPB subunit TFIIH p89 ...

... polypeptide 5 TF2H5_HUMAN TFB5 TFB5 ortholog TFIIH basal transcription factor complex TTD-A subunit TFIIH basal transcription factor complex TTDA subunit TGF2H5 Tests of ...

... MGC126218 MGC126219 TFIIH TFIIH 80 kDa subunit TFIIH basal transcription factor complex 80 kDa subunit TFIIH basal transcription factor complex helicase subunit TFIIH p80 TTD ...

... on medical imaging and typically occur in the basal ganglia, which are structures deep within the brain ... brain calcification by disrupting the connections between the basal ganglia and other areas of the brain, particularly ...

... brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have ... ferritin accumulate in the brain, particularly in the basal ganglia, resulting in the movement problems and other ...

... KIAA0328 Tests of ALMS1 PubMed ALMS1 CENTROSOME AND BASAL BODY ASSOCIATED PROTEIN; ALMS1 NCBI Gene ClinVar Collin ... localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin ...

... syndrome Aicardi-Goutieres syndrome Cree encephalitis Encephalopathy with basal ganglia calcification Familial infantile encephalopathy with intracranial calcification ...

The COL4A5 gene provides instructions for making one piece of a protein called collagen IV. Specifically, this gene makes the alpha5(IV) chain of collagen ...