Recessive mutations in CAKUT and VACTERL association
نویسندگان
چکیده
منابع مشابه
Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most frequent cause of end-stage renal disease in children in the US. However, its genetic etiology remains mostly elusive. VACTERL association is a rare disorder that involves congenital abnormalities in multiple organs including the kidney an...
متن کاملVACTERL Association
VACTERL association [3] is a term applied to a specific group of abnormalities involving structures derived from the mesoderm [4]. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. ?VACTERL? is an acronym, each letter standing for one of the defects associated with the condition: V for ve...
متن کاملVACTERL Association
VACTERL association [3] is a term applied to a specific group of abnormalities involving structures derived from the mesoderm [4]. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. ?VACTERL? is an acronym, each letter standing for one of the defects associated with the condition: V for ve...
متن کاملVACTERL/VATER Association
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In addition to these core component features, patients may also have other congenital anomalies. Although diagnostic criteria vary, the incidence is estim...
متن کاملVACTERL association in the newborn
VACTERL association is a non-random association of birth (congenital) defects that affects multiple median and para-median structures. VACTERL association is a useful acronym to denote vertebral abnormalities (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal or radial abnormalities (R), and limb abnormalities (L). Atleast 3 or more defects must be present to mak...
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ژورنال
عنوان ژورنال: Kidney International
سال: 2014
ISSN: 0085-2538
DOI: 10.1038/ki.2013.495