Identification of a SUFU germline mutation in a family with Gorlin syndrome

American Journal of Medical Genetics, Part A

Volumn 149, Issue 7, 2009, Pages 1539-1543

  Pastorino, L ^a   Ghiorzo, P ^a   Nasti, S ^a   Battistuzzi, L ^a   Cusano, R ^a   Marzocchi, C ^b   Garre M L ^c   Clementi, M ^b   Bianchi Scarra G ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b Dipartimento Pediatria   (Italy)

^c G GASLINI INSTITUTE   (Italy)

Author keywords

Basal cell nevus syndrome; BCNS; Gorlin syndrome; Medulloblastoma; NBCCS; Nevoid basal cell carcinoma syndrome; PTCH1; SUFU

Indexed keywords

ANTIINFECTIVE AGENT; PROTEIN PATCHED 1; SONIC HEDGEHOG PROTEIN; TUMOR SUPPRESSOR PROTEIN; TUMOR SUPPRESSOR PROTEIN SUFU; UNCLASSIFIED DRUG;

ARTICLE; BASAL CELL NEVUS SYNDROME; BRAIN SCINTISCANNING; CANCER SUSCEPTIBILITY; CASE REPORT; CEREBROSPINAL FLUID CYTOLOGY; CHEMOTHERAPY; CHILD; CHILDHOOD CANCER; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; DISEASE SEVERITY; GENE IDENTIFICATION; GENETIC ASSOCIATION; HEAD CIRCUMFERENCE; HEREDITY; HUMAN; HYDROCEPHALUS; MALE; MEDULLOBLASTOMA; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESIDUAL TUMOR; SIGNAL TRANSDUCTION; SYMPTOM; TREATMENT RESPONSE; TRIVENTRICULAR HYDROCEPHALUS; TUMOR; TUMOR SUPPRESSOR GENE;

ADULT; BASAL CELL NEVUS SYNDROME; BASE SEQUENCE; CHILD, PRESCHOOL; FAMILY; FEMALE; GERM-LINE MUTATION; HUMANS; RECEPTORS, CELL SURFACE; REPRESSOR PROTEINS;

ERINACEIDAE;

EID: 67649869544     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32944     Document Type: Article

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