A novel splicing mutation of PTCH1 in a Chinese family with nevoid basal cell carcinoma syndrome

Zhou, JF; Zhang, GY; Shi, M; Liu, ZS; Xiao, MY; Fu, SQ; Gong, XY; Shi, XL

Shi, XL (reprint author), Cent S Univ, Xiangya Hosp 2, Dept Med Genet, Changsha 410011, Hunan, Peoples R China.; Shi, XL (reprint author), Cent S Univ, Xiangya Hosp 2, Dept Gastroenterol, Changsha 410011, Hunan, Peoples R China.

MEDICAL MOLECULAR MORPHOLOGY, 2019; 52 (4): 235

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the development of multiple jaw keratocysts and bas......

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