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Epidermolysis bullosa dystrophica inversa, autosomal recessive

MedGen UID:
435963
•Concept ID:
C2673612
•
Disease or Syndrome
Synonym: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
 
OMIM®: 120120; 226600

Recent clinical studies

Diagnosis

Characterization of mutant type VII collagens underlying the inversa subtype of recessive dystrophic epidermolysis bullosa.
Woodley DT, Cogan J, Mosallaei D, Yim K, Chen M
J Dermatol Sci 2021 Nov;104(2):104-111. Epub 2021 Sep 23 doi: 10.1016/j.jdermsci.2021.09.006. PMID: 34674926Free PMC Article

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