Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia

European Journal of Medical Genetics

Volumn 55, Issue 2, 2012, Pages 124-127

  Ballarati, Lucia ^a   Cereda, Anna ^b   Caselli, Rossella ^a   Maitz, Silvia ^b   Russo, Silvia ^a   Selicorni, Angelo ^b   Larizza, Lidia ^a,c   Giardino, Daniela ^a  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

AP1S2; Array CGH; Xp22.2 deletion

Indexed keywords

AP1S2 GENE; ARTICLE; CASE REPORT; CHILD; CHROMOSOME XP; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONSTIPATION; DEVELOPMENTAL DISORDER; DNA MICROARRAY; ELECTROMYOGRAPHY; FACE DYSMORPHIA; FOLLOW UP; GENE; GENE DELETION; HUMAN; HYPERMETROPIA; HYPERREFLEXIA; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; POINT MUTATION; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SOCIAL DISABILITY; SPEECH DISORDER; X LINKED MENTAL RETARDATION;

ADAPTOR PROTEIN COMPLEX SIGMA SUBUNITS; CHILD; FEMALE; GENE DELETION; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MUSCLE HYPOTONIA; PSYCHOMOTOR DISORDERS;

EID: 84857442713     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.12.001     Document Type: Article

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