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European Journal of Medical Genetics
Volumn 55, Issue 12, 2012, Pages 747-752
Interstitial 16p13.3 microduplication: Case report and critical review of genotype-phenotype correlation
Author keywords

16p13.3 microduplication; CREBBP; Smallest region of overlap; SNP array analysis
Indexed keywords

APGAR SCORE; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; CAMPTODACTYLY; CASE REPORT; CHILD; CHROMOSOME 16P; CHROMOSOME DUPLICATION; CLINICAL EVALUATION; CLINODACTYLY; COGNITION; CONTROLLED STUDY; ECHOCARDIOGRAPHY; ECTOPIC KIDNEY; EPICANTHUS; FACE DYSMORPHIA; GENOTYPE PHENOTYPE CORRELATION; HEAD CIRCUMFERENCE; HERNIORRHAPHY; HUMAN; HYPERSALIVATION; HYPERTELORISM; HYPOSPADIAS; JOINT STIFFNESS; KIDNEY HYPOPLASIA; KYPHOSIS; LORDOSIS; MALE; MICROCEPHALY; MICROGNATHIA; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; MYOPIA; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; OLIGOHYDRAMNIOS; PALATE MALFORMATION; PALPEBRAL FISSURE; PELVIC DISEASE; PHALANX; PSYCHOMOTOR RETARDATION; PTOSIS; RESPIRATORY DISTRESS; SCHOOL CHILD; SCOLIOSIS; SCROTUM DISORDER; SHORT STATURE; SKULL RADIOGRAPHY; SMALL FOR DATE INFANT; SYNDACTYLY; THORAX DEFORMITY; TOE MALFORMATION; TOOTH; VARUS DEFORMITY; WECHSLER INTELLIGENCE SCALE;
EID: 84869868069     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.09.006     Document Type: Article
Times cited : (17)
References (8)
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.