Novel PTEN germline mutation in a family with mild phenotype: Difficulties in genetic counseling

Gene

Volumn 512, Issue 2, 2013, Pages 194-197

  Busa, Tiffany ^a   Chabrol, Brigitte ^a   Perret, Odile ^a   Longy, Michel ^b   Philip, Nicole ^a  

^a TIMONE HOSPITAL   (France)

^b INSTITUT BERGONIÉ   (France)

Author keywords

Familial macrocephaly; Genetic counseling; PTEN

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CEREBROVASCULAR MALFORMATION; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; FACE DYSMORPHIA; FAMILIAL DISEASE; FAMILIAL MACROCEPHALY; FAMILY; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HERITABILITY; HISTOPATHOLOGY; HUMAN; INTELLIGENCE TEST; LEARNING DISORDER; LIPOMA; MACROCEPHALY; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; MUSCLE HYPOTONIA; NEOPLASM; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NUCLEOTIDE SEQUENCE; PENIS GLANS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOTHERAPY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOM;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FAMILY; FEMALE; GENETIC COUNSELING; GERM-LINE MUTATION; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; MACROCEPHALY; MALE; MUSCLE HYPOTONIA; PTEN PHOSPHOHYDROLASE; RISK FACTORS;

GLANS;

EID: 84870317549     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.09.134     Document Type: Article

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