Novel PTCH1 Mutation Causes Gorlin-Goltz Syndrome

CONCLUSION: This study expands the mutation spectrum of PTCH1 in GS and facilitates the early diagnosis and screening of GS. PTCH1 [c.3512_3526del (p.1171_1176del)] may cause structural abnormalities and functional disabilities, leading to GS in families.PMID:38546523 | DOI:10.3290/j.cjdr.b5128601

Source: Cell Research - March 28, 2024 Category: Cytology Authors: Hai Tang Yue Hai Yan Cao Miao He Source Type: research