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PedAM

Pediatric Disease Annotations & Medicines




Disease muscular dystrophy
Symptom C0079299|eb simplex
Sentences 2
PubMedID- 20665883 Mutations in the gene encoding plectin (plec) cause two distinct autosomal recessive subtypes of epidermolysis bullosa: eb simplex (ebs) with muscular dystrophy (ebs-md), and ebs with pyloric atresia (ebs-pa).
PubMedID- 20052759 Mutations in the gene encoding plectin (plec1) cause two distinct autosomal recessive subtypes of epidermolysis bullosa (eb): eb simplex with muscular dystrophy (ebs-md), and eb simplex with pyloric atresia (ebs-pa).

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