Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe
- PMID: 23895935
- DOI: 10.1016/j.jdermsci.2013.06.013
Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe
Keywords: ARCI; Autosomal recessive congenital ichthyosis; Collodion membrane; LI; Lamellar ichthyosis; SHCB; TGM1; TGase-1; autosomal recessive congenital ichthyosis; lamellar ichthyosis; self-healing collodion baby; transglutaminase-1; β-Barrel 2 domain.
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