A 2.3 Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'

European Journal of Medical Genetics

Volumn 51, Issue 6, 2008, Pages 672-678

  Blyth, Moira ^a   Huang, Shuwen ^b   Maloney, Viv ^c   Crolla, John A ^b,c   Karen Temple, I ^a,d  

^a PRINCESS ANNE HOSPITAL   (United Kingdom)

^b National Genetics Reference Laboratory (Wessex)   (United Kingdom)

^c WESSEX REGIONAL GENETICS LABORATORY   (United Kingdom)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

Carney Complex; Interstitial deletion of 17q; IUGR; Mental retardation developmental delay; Posterior laryngeal cleft; PRKAR1A; Syndactyly 2 3 of toes

Indexed keywords

CYCLIC AMP; PROTEIN KINASE;

ARTICLE; CARNEY COMPLEX; CARNEY COMPLEX PLUS; CASE REPORT; CHILD; CHROMOSOME 17Q; CHROMOSOME ABERRATION; CONGENITAL DISORDER; FEMALE; GENE DELETION; GENETIC SCREENING; GROWTH RETARDATION; HUMAN; LARYNX DISORDER; LENTIGO; MENTAL DEFICIENCY; MICROCEPHALY; CHROMOSOME 17; CHROMOSOME DELETION; FLUORESCENCE IN SITU HYBRIDIZATION; INFANT; NUCLEIC ACID HYBRIDIZATION;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; NUCLEIC ACID HYBRIDIZATION;

EID: 56649117453     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.09.002     Document Type: Article

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