Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease characterized by hamartomas in multiple organ systems. This study was performed in one familial and two sporadic cases with TSC. Two novel mutations (c.1884_1887delAAAG and c.5266A>G) and two previously reported mutations (...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of dermatology 2018-07, Vol.45 (7), p.867-870
Hauptverfasser:	Zheng, Li‐Yun, LEE, Yu‐Wei, Han, Yang, Tang, Li‐Li, Cheng, Yu‐Yan, Dou, Jin‐Fa, Zhou, Fu‐Sheng, Zheng, Xiao‐Dong, Wang, Hong‐Yan, Wang, Pei‐Guang, Gao, Min
Format:	Artikel
Sprache:	eng
Schlagworte:	Autosomal dominant inheritance Chinese patients DNA sequencing gene mutation Genotypes genotype–phenotype correlation Heredity Mutation Phenotypes Seizures Skin diseases TSC1 and TSC2 Tuberous sclerosis tuberous sclerosis complex Tuberous Sclerosis Complex 1 Tuberous Sclerosis Complex 2
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!