A recent case report expands the clinical spectrum of autosomal recessive fatty acyl-CoA reductase 1 (FAR1) deficiency by identifying a previously unreported association with imperforate anus. This discovery may enhance understanding and diagnosis of this rare condition.
expansion of the clinical spectrum of autosomal recessive fatty acyl coa reductase 1 far1 deficiency a previously unreported association with imperforate anus a case report
Original title: “Expansion of the Clinical Spectrum of Autosomal Recessive Fatty Acyl-CoA Reductase 1 (FAR1) Deficiency: A Previously Unreported Association With Imperforate Anus-A Case Report.”