Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome

Heterozygous tandem duplication within thePTCH1gene results in nevoid basal cell carcinoma syndrome

(2012) Rika Kosaki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma

(2012) Mamiko Endo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation

(2012) Chihiro Kijima et al.   Familial Cancer

Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan

(2011) K Nagao et al.   CLINICAL GENETICS

Identification of aSUFUgermline mutation in a family with Gorlin syndrome

(2009) L. Pastorino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations

(2009) L. Brugieres et al.   JOURNAL OF MEDICAL GENETICS