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Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosaHuman Mutation, 39
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This case report describes a 1-year-old child of consanguineous birth with double recessive gene pathology, both cutis laxa (PYCR1) and nephrotic syndrome (PLCE1).
JAMA Dermatology – American Medical Association
Published: Feb 26, 2019
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