Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome

Tuberous sclerosis (TSC) is an autosomal dominant trait with variable expression most frequently characterised by neurological impairment (seizures and learning difficulties), by dermatological manifestations (facial angiofibromas, periungual fibromas, shagreen patches, and hypopigmented macules), a...

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Veröffentlicht in:	Journal of medical genetics 2002-02, Vol.39 (2), p.136-141
Hauptverfasser:	Dauwerse, J G, Bouman, K, van Essen, A J, van der Hout, A H, Kolsters, G, Breuning, M H, Peters, D J M
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics acrofacial dysostosis ADPKD Adult AFD autosomal dominant polycystic kidney disease Chromosome Deletion Chromosomes Chromosomes, Human, Pair 16 - genetics Cloning Craniofacial dysostosis Cysts Dysostoses - genetics Fingers & toes Genes Genetic aspects Hemodialysis Humans Hypertension Kidney diseases Letter to JMG Male Medical imaging Polycystic Kidney, Autosomal Dominant - genetics Proteins - genetics Repressor Proteins - genetics Syndrome TRPP Cation Channels TSC TSC2-PKD1 contiguous gene syndrome tuberous sclerosis Tuberous Sclerosis - genetics Tuberous Sclerosis Complex 2 Protein Tumor Suppressor Proteins
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