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Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant

MedGen UID:: 382144
•Concept ID:: C2673611
•: Disease or Syndrome

Synonym:	Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant

OMIM®:	120120; 226600

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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.

Gardella R, Belletti L, Zoppi N, Marini D, Barlati S, Colombi M
Am J Hum Genet 1996 Aug;59(2):292-300. PMID: 8755915 Free PMC Article

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Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant
Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant

MedGen
C2673611[conceptid] (1)
MedGen
C2673612[trait identifier] AND "OMIM"[submitter] (9)
ClinVar
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Epidermolysis bullosa dystrophica inversa, autosomal recessive

MedGen
C2673612[conceptid] (1)
MedGen

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