Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome

Clinical Genetics

Volumn 70, Issue 1, 2006, Pages 57-62

  Badens, Catherine ^a,b   Lacoste, C ^a   Philip, N ^a   Martini, N ^a   Courrier, S ^b   Giuliano, F ^c   Verloes, A ^d   Munnich, A ^e   Leheup, B ^f   Burglen, L ^g   Odent, S ^h   Van Esch, H ⁱ   Levy, N ^a,b,j  

^a TIMONE HOSPITAL   (France)

^b AIX MARSEILLE UNIVERSITY   (France)

^c CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f UNIVERSITY HOSPITAL OF NANCY   (France)

^g ARMAND TROUSSEAU HOSPITAL   (France)

^h SERVICE DE RHUMATOLOGIE   (France)

ⁱ UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^j INSERM   (France)

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Author keywords

ATRX syndrome; Genotype phenotype correlation; Mental retardation; Urogenital abnormalities

Indexed keywords

DNA; HELICASE; HOMEODOMAIN PROTEIN;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; DISEASE SEVERITY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DNA INTERACTION; UROGENITAL TRACT MALFORMATION; X LINKED MENTAL RETARDATION;

ALPHA-THALASSEMIA; DNA HELICASES; DNA, COMPLEMENTARY; FEMALE; HUMANS; MALE; MENTAL RETARDATION; MOTHERS; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; PSYCHOMOTOR DISORDERS; SYNDROME; UROGENITAL ABNORMALITIES; X CHROMOSOME INACTIVATION;

EID: 33746890556     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00641.x     Document Type: Article

References (14)

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