Xq13.2q21.1 duplication Encompassing the ATRX Gene in a man with mental Retardation, minor facial and Genital Anomalies, short Stature and broad Thorax

American Journal of Medical Genetics, Part A

Volumn 149, Issue 4, 2009, Pages 760-766

  Lugtenberg, Dorien ^a   De Brouwer, Arjan P M ^a   Oudakker, Astrid R ^a   Pfundt, Rolph ^a   Hamel, Ben C J ^a   Van Bokhoven, Hans ^a   Bongers, Ernie M H F ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Array CGH; ATRX; Duplication; XLMR; Xq13; Xq21

Indexed keywords

MONOCARBOXYLATE TRANSPORTER 8;

ADULT; ARTICLE; ATRX GENE; BROAD THORAX; CASE REPORT; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; FACE MALFORMATION; GENE; GENE FUNCTION; GENITAL MALFORMATION; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; THORAX DEFORMITY; X LINKED MENTAL RETARDATION;

ABNORMALITIES, MULTIPLE; ADULT; ANEUPLOIDY; BASE SEQUENCE; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL ABNORMALITIES; DNA HELICASES; DNA PRIMERS; GENE DOSAGE; GENE DUPLICATION; GENITALIA, MALE; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; NUCLEAR PROTEINS; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 63749127459     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32742     Document Type: Article

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