Partial duplications of the ATRX gene cause the ATR-X syndrome

European Journal of Human Genetics

Volumn 15, Issue 10, 2007, Pages 1094-1097

  Thienpont, Bernard ^a   de Ravel, Thomy ^a   Van Esch, Hilde ^a   Van Schoubroeck, Dominique ^b   Moerman, Philippe ^b   Vermeesch, Joris Robert ^a   Fryns, Jean Pierre ^a   Froyen, Guy ^c   Lacoste, Caroline ^d   Badens, Catherine ^d   Devriendt, Koen ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^d TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN ATRX; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ASPHYXIA; ATR X SYNDROME; BIOMETRY; CASE REPORT; CLINICAL ASSESSMENT; CONVULSION; GENE DUPLICATION; GENE MUTATION; HEART ATRIUM SEPTUM DEFECT; HERMAPHRODITISM; HUMAN; HUMAN TISSUE; HYPERTELORISM; HYPOVENTILATION; INFANT; MALE; MORTALITY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PREGNANCY; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; X LINKED MENTAL RETARDATION;

ALPHA-THALASSEMIA; DNA HELICASES; DNA MUTATIONAL ANALYSIS; GENE DUPLICATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENTAL RETARDATION, X-LINKED; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; RNA, MESSENGER; SYNDROME;

EID: 34848812617     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201878     Document Type: Article

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