Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosaLysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis BullosaRecessive Dystrophic Epidermolysis Bullosa: Advances in the Laboratory Leading to New TherapiesA missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosaRecessive dystrophic epidermolysis bullosa treated with phenytoinTwo novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosaFull-thickness skin grafting in pseudosyndactily with recessive dystrophic epidermolysis bullosa.Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy.Botulinum toxin A injection for chronic anal fissures and anal sphincter spasm improves quality of life in recessive dystrophic epidermolysis bullosa.Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs.Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.A case of non-hallopeau-siemens recessive dystrophic epidermolysis bullosa.The hand in recessive dystrophic epidermolysis bullosa.Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa.Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype.Bone marrow transplantation for recessive dystrophic epidermolysis bullosaNo evidence that human papillomavirus is responsible for the aggressive nature of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma.Recessive dystrophic epidermolysis bullosa-associated squamous-cell carcinoma: an enigmatic entity with complex pathogenesis.Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells.Transplanted bone marrow-derived circulating PDGFRα+ cells restore type VII collagen in recessive dystrophic epidermolysis bullosa mouse skin graft.Recessive dystrophic epidermolysis bullosa: evidence for an altered collagenase in fibroblast culturesSquamous cell carcinoma developing in a 12-year-old boy with nonHallopeau-Siemens recessive dystrophic epidermolysis bullosa.Peripheral neuro-immune pathology in recessive dystrophic epidermolysis bullosaPregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics.Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.Human COL7A1-corrected induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosaPreconditioning of mesenchymal stem cells for improved transplantation efficacy in recessive dystrophic epidermolysis bullosaOro-dental manifestations in Hallopeau-Siemens-type recessive dystrophic epidermolysis bullosa.Photodynamic therapy for Basal cell carcinoma in recessive dystrophic epidermolysis bullosaGenetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.Gene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa.Recessive dystrophic epidermolysis bullosa. Evidence for increased collagenase as a genetic characteristic in cell culturePrenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)Basic fibroblast growth factor: a missing link between collagen VII, increased collagenase, and squamous cell carcinoma in recessive dystrophic epidermolysis bullosa.Effective esophageal balloon dilation for esophageal stenosis in recessive dystrophic epidermolysis bullosa.Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa
P921
Q24562156-6449B4A7-7950-4885-9003-D2564872042FQ27318540-2D5F4F6F-F71F-436C-A013-F64842B6A160Q28084472-DA1AB859-DECC-4584-8602-7BFF7D108B00Q28270168-4EC302FE-F0D4-47F6-984E-8EC4C232DA8AQ28316715-CB89F394-B34C-482B-93EA-AF60B85AA07AQ28485440-C58EFAB1-188D-4E86-A0B4-979328F7F9DBQ33432160-58DA54F2-951D-4494-9AF1-19C3035CC056Q33603857-D14DBBD9-846B-449E-83E1-91EB1AE80B48Q33643640-BD688A15-3581-41C6-9B72-05C579DE85B6Q33664198-E29413A8-4C1E-413F-BD39-CE77341CA0E6Q33675218-2132D2D2-00D3-4C94-8C42-55EE3C8E80B4Q33682512-50C333C5-6142-4731-A284-3849FB72EFC9Q33709899-68B4095F-E89B-4A19-98D3-B4DABA022CF0Q33904556-0F0E0C4B-D0D3-48E0-8903-0DC320691678Q34104975-12C2C5D4-8D4B-4F32-9DFF-D8992BC2899DQ34120479-31B1FCB5-997C-4205-82D6-061520AD47DDQ34210703-4573CD57-7DEB-4581-8151-2F7C51017E4DQ34256616-B429039F-2059-4528-AA98-2EBDD3E6E835Q34591340-25691101-31B7-4A6E-A384-0218BC542FE3Q34686841-30962FBB-42FE-475B-AB4C-6282ADDCE6D7Q35008203-40EA828C-A9E4-440F-B50D-E896B0FC247CQ35056447-E9D2B63D-E3A4-4F1B-9551-3467E220D2ADQ35058683-BAB93F18-4B57-4192-8074-F8D160A7D834Q35145193-B372355C-12E5-4042-B4ED-41A3B4E32A64Q35196405-0502FA23-F04D-42C2-ACC0-369C0229FCCDQ35204461-C9F7055F-4312-4350-9535-3A7A9AE1A4C6Q35249597-1FC7363E-3EA5-4500-977F-BB24F96F1398Q35597980-C087D011-F84C-4983-847A-8723EF2D6E64Q35655462-AD2A5E34-0922-49B3-ACC3-3913F54F2565Q35677018-48D83484-1A25-43AF-90E2-7AAB8430DB57Q35684352-DB991404-8CCF-4CA6-99A7-1261E2615200Q35822369-FCD8C67E-15A5-4ADB-9437-7C6D87A7900BQ35881950-335B5301-E994-4534-9BAB-E09C0452E306Q35889613-8232E308-27F0-4809-BD7D-581EFD87F629Q36326838-3F83603C-BC2B-429A-B097-15346CD13B46Q36342077-E9652D91-0079-4C0F-9884-00D775D6DCA2Q36437677-A3C793B1-965E-4CDA-BEAE-C039AF6F952CQ36438308-47B98522-E739-46C8-AE7E-588E7BFBBE48Q36473868-952B9A2F-8923-47F9-ACB4-8CDB26E89676Q36534595-B258EF77-F066-49FA-B047-5170268DCA71
P921
description
Human disease
@en
Krankheit
@de
مرض يصيب الإنسان
@ar
name
Epidermolyse bulleuse dystrophique récessive
@fr
Hallopeau-Siemens-Syndrom
@de
Recessive dystrophic epidermolysis bullosa
@en
متلازمة هالوبو سيمنز
@ar
type
label
Epidermolyse bulleuse dystrophique récessive
@fr
Hallopeau-Siemens-Syndrom
@de
Recessive dystrophic epidermolysis bullosa
@en
متلازمة هالوبو سيمنز
@ar
altLabel
Hallopeau–Siemens disease
@en
RDEB, Hallopeau-Siemens type
@en
autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
@en
autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
@en
recessive dystrophic epidermolysis bullosa
@en
severe generalized RDEB
@en
severe generalized recessive dystrophic epidermolysis bullosa
@en
prefLabel
Epidermolyse bulleuse dystrophique récessive
@fr
Hallopeau-Siemens-Syndrom
@de
Recessive dystrophic epidermolysis bullosa
@en
متلازمة هالوبو سيمنز
@ar
P279
P2888
P1199
P1550
P1995
P4229
P492
P699
DOID:0060642