Last Updated: 09/26/2026
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Found 17 publications
An unexpected case of non-uremic calciphylaxis in a patient with multiple risk factors.
Journal: Dermatology online journal
Published: December 27, 2022
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 08, 2021
Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
Journal: Matrix biology : journal of the International Society for Matrix Biology
Published: April 02, 2021
The matriptase-prostasin proteolytic cascade in dermatologic diseases.
Journal: Experimental dermatology
Published: February 05, 2020
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.
Journal: Matrix biology : journal of the International Society for Matrix Biology
Published: August 07, 2018
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
Journal: Human mutation
Published: July 06, 2018
Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.
Journal: Clinical infectious diseases : an official publication of the Infectious Diseases Society of America
Published: May 08, 2018
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
Journal: Journal of inherited metabolic disease
Published: March 31, 2018
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
Journal: Human mutation
Published: March 09, 2018
Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
Journal: Experimental dermatology
Published: January 11, 2018
The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.
Journal: BMC medical genetics
Published: December 06, 2017
Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects.
Journal: The British journal of dermatology
Published: October 13, 2017
Last Updated: 09/26/2026