Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome

European Journal of Medical Genetics

Volumn 51, Issue 5, 2008, Pages 472-478

  Le Brun Keris, Yann ^a   Jouk, Pierre Simon ^b   Saada Sebag, Géraldine ^a   Roux, Jean Jacques ^a   Mattei, Bertrand ^a   Bagait, Laure ^c   Paoloni Giacobino, Ariane ^d   Grandchamp, Bernard ^c   Soufir, Nadem ^c   Lespinasse, James ^a  

^a GENERAL HOSPITAL   (France)

^b GRENOBLE UNIVERSITY HOSPITAL   (France)

^c BICHAT HOSPITAL   (France)

^d UNIVERSITY OF GENEVA   (Switzerland)

Author keywords

Corpus callosum agenesia; Gorlin syndrome; MC1R gene; Nevoid basal cell carcinoma syndrome; PTCH1 gene

Indexed keywords

PATCHED HOMOLOGUE 1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ABORTION; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BASAL CELL NEVUS SYNDROME; BRAIN MALFORMATION; CANCER DIAGNOSIS; CANCER RISK; CASE REPORT; CHROMOSOME 18; CLEFT LIP FACE PALATE; CORPUS CALLOSUM AGENESIS; FAMILIAL DISEASE; FEMALE; FETUS; FETUS ECHOGRAPHY; GENE DELETION; HUMAN; MALE; MUTATIONAL ANALYSIS; PEDIGREE; PREGNANCY TERMINATION; PRENATAL PERIOD; SECOND TRIMESTER PREGNANCY; SEQUENCE ANALYSIS; SKULL MALFORMATION;

BASAL CELL NEVUS SYNDROME; CORPUS CALLOSUM; CRANIOFACIAL ABNORMALITIES; EXONS; FAMILY HEALTH; FEMALE; GENE DELETION; HUMANS; MUTATION; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; RECEPTOR, MELANOCORTIN, TYPE 1; RECEPTORS, CELL SURFACE; SAINT KITTS AND NEVIS;

EID: 50549104072     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.04.002     Document Type: Article

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