PMID 12879481 2003 Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature.
PMID 9231911 1997 The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.
PMID 15545745 2005 Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.
PMID 25403219 2014 Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.
PMID 26604511 2015 Gorlin-Goltz Syndrome: Case report and literature review.
PMID 9096761 1997 Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.
PMID 24204797 2013 PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
PMID 26356331 2016 Basal cell nevus syndrome: clinical and molecular review and case report.
PMID 17001668 2006 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.
PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.
PMID 8840969 1996 Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
PMID 24529220 2014 Multiple spinal osteochondromata and osteosarcoma in a patient with Gorlin's syndrome.
rs1554708787 in
PTCH1 gene and
Muscle hypotonia
PMID 11941477 2002 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
PMID 26604511 2015 Gorlin-Goltz Syndrome: Case report and literature review.
PMID 26356331 2016 Basal cell nevus syndrome: clinical and molecular review and case report.
PMID 24529220 2014 Multiple spinal osteochondromata and osteosarcoma in a patient with Gorlin's syndrome.
PMID 15545745 2005 Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.
PMID 25403219 2014 Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.
PMID 17001668 2006 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.
PMID 12879481 2003 Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature.
PMID 24204797 2013 PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
PMID 8840969 1996 Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.
PMID 9096761 1997 Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.
PMID 9231911 1997 The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.
rs1554708787 in
PTCH1 gene and
Overgrowth
PMID 12879481 2003 Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature.
PMID 17001668 2006 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.
PMID 11941477 2002 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
PMID 26356331 2016 Basal cell nevus syndrome: clinical and molecular review and case report.
PMID 8840969 1996 Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
PMID 26604511 2015 Gorlin-Goltz Syndrome: Case report and literature review.
PMID 24529220 2014 Multiple spinal osteochondromata and osteosarcoma in a patient with Gorlin's syndrome.
PMID 9096761 1997 Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.
PMID 15545745 2005 Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.
PMID 25403219 2014 Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.
PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.
PMID 9231911 1997 The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.
PMID 24204797 2013 PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.