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7. Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia. Kaneyasu H; Takahashi K; Ohta N; Okada S; Kimura S; Yasuno S; Murata S; Katsura S; Yamada N; Shiraishi K; Tsuda J; Miyai S; Kurahashi H; Hasegawa S; Shimomura Y J Dermatol; 2023 Feb; 50(2):239-244. PubMed ID: 35996939 [TBL] [Abstract][Full Text] [Related]
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13. Eye Involvement and Management in Inherited Epidermolysis Bullosa. Bachir Y; Daruich A; Marie C; Robert MP; Bremond-Gignac D Drugs; 2022 Aug; 82(12):1277-1285. PubMed ID: 36074321 [TBL] [Abstract][Full Text] [Related]
14. Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. Villa CR; Ryan TD; Collins JJ; Taylor MD; Lucky AW; Jefferies JL Neuromuscul Disord; 2015 Feb; 25(2):165-8. PubMed ID: 25454730 [TBL] [Abstract][Full Text] [Related]
15. A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex. So JY; Fulchand S; Wong CY; Li S; Nazaroff J; Gorell ES; de Souza MP; Murrell DF; Teng JM; Chiou AS; Tang JY Orphanet J Rare Dis; 2022 Jul; 17(1):270. PubMed ID: 35841105 [TBL] [Abstract][Full Text] [Related]
16. A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara. Irvine AD; McKenna KE; Bingham A; Nevin NC; Hughes AE J Invest Dermatol; 1997 Dec; 109(6):815-6. PubMed ID: 9406827 [TBL] [Abstract][Full Text] [Related]
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