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Volumn 53, Issue 4, 2010, Pages 208-212

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

(20)  Faivre, Laurence a   Van Kien, Philippe Khau b   Callier, Patrick c   Ruiz Pallares, Nathalie b   Baudoin, Corinne b   Plancke, Aurélie b   Wolf, Jean Eric c   Thauvin Robinet, Christel a   Durand, Edith c   Minot, Delphine a   Dulieu, Véronique d   Metaizeau, Jean Damien d   Leheup, Bruno e   Coron, Fanny a   Bidot, Samuel c   Huet, Frédéric a   Jondeau, Guillaume f   Boileau, Catherine f,g   Claustres, Mireille b,h,i   Mugneret, Francine c  

i INSERM   (France)

Author keywords

CGH array; Deletion 15q21; FBN1 gene; Marfan syndrome; MLPA

Indexed keywords

ADOLESCENT; ALLELE; ARACHNOID CYST; ARTICLE; CASE REPORT; CLINICAL FEATURE; FACE DYSMORPHIA; FBN1 GENE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE PROBE; GENE SEQUENCE; GENU RECURVATUM; HAPLOTYPE; HETEROZYGOSITY LOSS; HIGH ARCHED PALATE; HUMAN; JOINT LAXITY; MARFAN SYNDROME; MICROARRAY ANALYSIS; MICROSATELLITE MARKER; MITRAL VALVE REGURGITATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; SCOLIOSIS; SPEECH DISORDER; STRIA; VALGUS KNEE; ADULT; CHILD; CHROMOSOME 15; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MICROARRAY; DNA PROBE; GENETICS; INTELLECTUAL IMPAIRMENT; MALE; MUTATION; PATHOLOGY; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 77954383790     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.05.002     Document Type: Article
Times cited : (16)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.