Delineating the 17q24.2-q24.3 microdeletion syndrome phenotype

European Journal of Medical Genetics

Volumn 55, Issue 12, 2012, Pages 700-704

  Lestner, Jodi M ^a   Ellis, Richard ^a   Canham, Natalie ^a  

^a North West Thames Regional Genetics Unit ^*  (United Kingdom)

Author keywords

Andersen Tawil Syndrome; ATP binding cassette transporters; Interstitial deletion of 17q; KCNJ2; MAP2K6; Microdeletion syndrome

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; TRANSCRIPTION FACTOR SOX9;

ANDERSEN SYNDROME; ARTICLE; BICUSPID AORTIC VALVE; BONE BOWING; CAMPTODACTYLY; CASE REPORT; CHANNELOPATHY; CHILD; CHROMOSOME 17Q; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DYSLEXIA; DYSPHAGIA; ECHOCARDIOGRAPHY; FACE DYSMORPHIA; FAMILY HISTORY; FEEDING DISORDER; FEMALE; FLUOROSCOPY; GASTROESOPHAGEAL REFLUX; GENE DELETION; HEART PALPITATION; HUMAN; HYPERMETROPIA; HYPODONTIA; INTERSTITIAL CHROMOSOME DELETION; LARYNGOMALACIA; LEARNING DISORDER; MANDIBLE HYPOPLASIA; MICROGNATHIA; MICROSTOMIA; MITRAL VALVE REGURGITATION; MUSCLE HYPOTONIA; NIPPLE MALFORMATION; OSSIFICATION; PALPEBRAL FISSURE ANOMALY; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PLAGIOCEPHALY; PTOSIS; PULMONARY ARTERY STENOSIS; SCHOOL CHILD; SCOLIOSIS; SKELETON MALFORMATION; STICKLER SYNDROME; TOOTH MALFORMATION; ULCERATIVE COLITIS;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; FIBROMATOSIS, GINGIVAL; HUMANS; HYPERTRICHOSIS; LEG; PHENOTYPE;

EID: 84869888708     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.08.003     Document Type: Article

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