Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex

Klonowska, K; Thiele, EA; Grevelink, JM; Thorner, AR; Kwiatkowski, DJ

Kwiatkowski, DJ (通讯作者)，Brigham & Womens Hosp, Div Pulm & Crit Care Med, Canc Genet Lab, Boston, MA 02115 USA.

JOURNAL OF MEDICAL GENETICS, 2022; 59 (9): 920

Abstract

Tuberous sclerosis complex (TSC) is a genetic syndrome due to mutations in either TSC1 or TSC2, leading to the development of hamartomatous tumours at......

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