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Case Reports
. 2013 Nov;72(2):197-9.
doi: 10.1016/j.jdermsci.2013.06.013. Epub 2013 Jul 10.

Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe

Affiliations
Case Reports

Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe

Kazumitsu Sugiura et al. J Dermatol Sci. 2013 Nov.
No abstract available

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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