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Inflammatory skin and bowel disease, neonatal, 2; NISBD2

Disease ID:984
Name:Inflammatory skin and bowel disease, neonatal, 2; NISBD2
Associated with:1 target
Synonyms
Neonatal inflammatory skin and bowel disease
Database Links
OMIM: 616069
Orphanet: ORPHA294023

Targets

epidermal growth factor receptor
Comments:  A homozygous missense mutation in the EGFR gene has been reported in a single patient who died from neonatal inflammatory skin and bowel disease.
References:  1

Ligands

No ligand related data available for Inflammatory skin and bowel disease, neonatal, 2; NISBD2

References

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1. Campbell P, Morton PE, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN et al.. (2014) Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR. J. Invest. Dermatol., 134 (10): 2570-2578. [PMID:24691054]