Publications by authors named "Anna C E Hurst"

13Publications

mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis.

Neurol Genet 2020 Aug 25;6(4):e476. Epub 2020 Jun 25.

Department of Neurology (M.K., M.B., E.E.U.), University of Alabama at Birmingham (UAB); Department of Pediatrics (M.A.L., M.B.), Children's of Alabama | UAB; HudsonAlpha Institute for Biotechnology (K.B., G.S.B., G.M.C.), Huntsville, AL; and Department of Genetics (B.R.K., A.C.E.H.), UAB.

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August 2020

Dysmorphology in the Era of Genomic Diagnosis.

J Pers Med 2020 Mar 17;10(1). Epub 2020 Mar 17.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35243, USA.

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March 2020

Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.

Mol Cytogenet 2018 20;11:60. Epub 2018 Dec 20.

3Department of Genetics, University of Alabama at Birmingham, 720 20th St. S, Birmingham, AL 35294 USA.

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December 2018

Facial recognition software in clinical dysmorphology.

Authors:
Anna C E Hurst

Curr Opin Pediatr 2018 12;30(6):701-706

Department of Genetics, University of Alabama at Birmingham, Birmingham, USA.

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December 2018

Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy.

J Clin Lipidol 2017 May - Jun;11(3):757-762. Epub 2017 Apr 3.

Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX, USA. Electronic address:

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December 2017

Foramen magnum compression in Coffin-Lowry syndrome: A case report.

Am J Med Genet A 2017 Apr 12;173(4):1087-1089. Epub 2017 Feb 12.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

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April 2017