Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. Issue 4 (1st April 2005)

• Record Type: Journal Article
• Authors: Yatsenko, S A; Cheung, S W; Scott, D A; Nowaczyk, M J M; Tarnopolsky, M; Naidu, S; Bibat, G; Patel, A; Leroy, J G; Scaglia, F; Stankiewicz, P; Lupski, J R
• Is Part Of: Journal of medical genetics. Volume 42:Issue 4(2005)
• Page Start: 328
• Page End: 335
• Publication Date: 2005-04-01
• Subjects: ASD, atrial septal defect -- BAC, bacterial artificial chromosome -- CHD, congenital heart defects -- FISH, fluorescence in situ hybridisation -- GU, genito-urinary -- IHH, idiopathic hypogonadotropic hypogonadism -- LCR, low copy repeat -- NVDCCs, N-type voltage dependent Ca2+ channels -- OTCS, Opitz trigonocephaly C syndrome -- SNP, single nucleotide polymorphism -- SRO, shortest region of overlap -- VSD, ventricular septal defect; contiguous gene syndrome -- deletion 9q34.3 -- genotype-phenotype correlation -- Opitz trigonocephaly C syndrome -- telomere; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2004.028258
• Languages: English
• ISSNs: 1468-6244