A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears

European Journal of Medical Genetics

Volumn 50, Issue 4, 2007, Pages 315-321

  Caselli, R ^a   Mencarelli, M A ^a   Papa, F T ^a   Uliana, V ^a   Schiavone, S ^a   Strambi, M ^a   Pescucci, C ^a   Ariani, F ^a   Rossi, V ^b   Longo, I ^a   Meloni, I ^a   Renieri, A ^a   Mari, F ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

Author keywords

6q interstitial deletion; Array CGH; Cardiac septal defect; Chromosome 6; Ears abnormalities; PPP1R14C

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 6Q; CHROMOSOME DELETION; DEVELOPMENTAL DISORDER; EAR MALFORMATION; FACE DYSMORPHIA; FEMALE; GENE; GROWTH DISORDER; HEART SEPTUM DEFECT; HUMAN; PATENT DUCTUS ARTERIOSUS; PPP1R14C GENE; SCHOOL CHILD; TRICUSPID VALVE REGURGITATION;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; CRANIOFACIAL ABNORMALITIES; EAR; FEMALE; GROWTH DISORDERS; HEART SEPTAL DEFECTS; HUMANS; LIP; PHOSPHOPROTEIN PHOSPHATASE;

EID: 34447337999     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.03.003     Document Type: Article

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