Article
Phenotypic diversity of patients diagnosed with VACTERL association.
American journal of medical genetics. Part A - 1 Sept 2018
Husain Majid, Dutra-Clarke Marina, Lemieux Bryan, Wencel Marie, Solomon Benjamin D, Kimonis Virginia
Abstract excerpt
The combination of vertebral, anal, cardiac, tracheo-esophageal, renal and limb anomalies termed VACTERL association, also referred to as VATER, has been used as a clinical descriptor and more recently, a diagnosis of exclusion, for a specific group of phenotypic manifestations that have been observed to co-occur non-randomly. Though the causes remain elusive and poorly understood in most patients, VACTERL...
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