Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.
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DOI: 10.1002/bdr2.1042
Abstract: BACKGROUND The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R),… read more here.
Keywords: copy number; vacterl like; vacterl vater; vater vacterl ... See more keywords
Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
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DOI: 10.1002/bdr2.2008
Abstract: BACKGROUND The acronym VATER/VACTERL association describes the combination of at least three component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations… read more here.
Keywords: vater vacterl; vacterl like; vacterl; foxf1 hspa6 ... See more keywords