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ENRestrictive Dermopathy 1 (RSDM1)
Alias:
Lethal Tight Skin Contracture Syndrome
Fetal Hypokinesia Sequence Due to Restrictive Dermopathy
Tight Skin Contracture Syndrome, Lethal
Hyperkeratosis-Contracture Syndrome
Restrictive Dermopathy 1, Lethal
Rsdm1
Dermopathy, Restrictive, Lethal
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Restrictive Dermopathy 1, also known as lethal tight skin contracture syndrome, is related to restrictive dermopathy and restrictive dermopathy 2. An important gene associated with Restrictive Dermopathy 1 is ZMPSTE24 (Zinc Metallopeptidase STE24), and among its related pathways/superpathways are Adipogenesis and Overlap between signal transduction pathways contributing to LMNA laminopathies. Affiliated tissues include skin and placenta, and related phenotypes are depressed nasal bridge and hypertelorism
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MALACARDS
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