FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother

European Journal of Human Genetics

Volumn 8, Issue 3, 2000, Pages 157-162

  Lo Nigro, Cristiana ^a   Faravelli, Francesca ^a   Cavani, Simona ^a   Perroni, Lucia ^a   Novello, Paolo ^a   Vitali, Mariarosa ^a   Bricarelli, Franca Dagna ^a   Grasso, Marina ^a  

^a GALLIERA HOSPITAL   (Italy)

Author keywords

FRAXE; Genetic counselling; Genotype phenotype correlation; Mental retardation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME XQ; CONTROLLED STUDY; CPG ISLAND; DIZYGOTIC TWINS; DNA METHYLATION; DOWN REGULATION; EPILEPSY; FACE DYSMORPHIA; FRAGILE X SYNDROME; GENE AMPLIFICATION; GENE MUTATION; GENE SILENCING; HIGH ARCHED PALATE; HUMAN; HUMAN CELL; HYPERREFLEXIA; MALE; MARFANOID HABITUS; MENTAL DEFICIENCY; MOLECULAR GENETICS; MOTHER; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMETRY; SIBLING; TRINUCLEOTIDE REPEAT;

ADULT; CPG ISLANDS; DNA METHYLATION; FRAGILE X SYNDROME; GENETIC COUNSELING; HUMANS; MALE; MENTAL RETARDATION; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; PROTEINS; TRANS-ACTIVATORS;

RAPHIA FRATER;

EID: 0034032832     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200425     Document Type: Article

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