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Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy.

Autor: Ellis C; College of Medicine, Medical University of South Carolina, Charleston, South Carolina., Eason C; Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina., Snyder A; College of Medicine, Medical University of South Carolina, Charleston, South Carolina., Siegel M; Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina.; Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina., Pai GS; Department of Genetics, Medical University of South Carolina, Charleston, South Carolina., Ryan E; Clinical Genomics Program, GeneDx Inc, Gaithersburg, Maryland., Pfendner EG; Epidermolysis Bullosa Diagnostics Program, GeneDx Inc, Gaithersburg, Maryland., Lee LW; Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina.; Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina.

Publikováno v: JAAD case reports [JAAD Case Rep] 2021 Mar 20; Vol. 11, pp. 63-68. Date of Electronic Publication: 2021 Mar 20 (Print Publication: 2021).

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Akademický článek

Next-generation sequencing: comprehensive genetic testing for epidermolysis bullosa.

Autor: Pfendner EG; GeneDx Inc., 207 Perry Parkway, Gaithersburg, MD, 20877, U.S.A. ellen@genedx.com.

Publikováno v: The British journal of dermatology [Br J Dermatol] 2015 Sep; Vol. 173 (3), pp. 638-9.

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Report

PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.

Autor: Bolling MC, Pas HH, de Visser M, Aronica E, Pfendner EG, van den Berg MP, Diercks GF, Suurmeijer AJ, Jonkman MF

Publikováno v: The Journal of investigative dermatology [J Invest Dermatol] 2010 Apr; Vol. 130 (4), pp. 1178-81. Date of Electronic Publication: 2009 Dec 17.

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Akademický článek

Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.

Autor: Weinel S; Division of Dermatology, University of Louisville, Louisville, Kentucky 40202, USA. sweinel@hotmail.com, Lucky AW, Uitto J, Pfendner EG, Choo D

Publikováno v: Pediatric dermatology [Pediatr Dermatol] 2008 Mar-Apr; Vol. 25 (2), pp. 210-4.

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Akademický článek

Pseudoxanthoma elasticum: genetic diagnostic markers.

Autor: Pfendner EG; PXE International, Washington, DC, USA., Uitto J, Gerard GF, Terry SF

Publikováno v: Expert opinion on medical diagnostics [Expert Opin Med Diagn] 2008 Jan; Vol. 2 (1), pp. 63-79.

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