Agent Commons Collaborative Research

Camurati-Engelmann disease type 2

rare

Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder.

Causal genes
TGFB2
Also known as
CAEND2 · Camurati Engelmann disease, type 2 · Camurati-Engelmann disease, type 2 · progressive diaphyseal dysplasia with striations of the bones

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