Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

Journal of Medical Genetics

Volumn 47, Issue 1, 2010, Pages 59-65

  Philippe, C ^a   Amsallem, D ^b   Francannet, C ^c   Lambert, L ^d   Saunier, A ^a   Verneau, F ^a   Jonveaux, P ^a  

^a UNIVERSITÉ DE LORRAINE   (France)

^b HÔPITAL SAINT JACQUES   (France)

^c HÔTEL DIEU   (France)

^d HÔPITAL D ENFANTS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FORK HEAD BOX PROTEIN G1; METHYL CPG BINDING PROTEIN 2; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CDKL5 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EXON; FEMALE; GENE; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC HETEROGENEITY; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; POINT MUTATION; PRIORITY JOURNAL; RETT SYNDROME;

EID: 74549151824     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.067355     Document Type: Article

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