(Q28024490)
English
autosomal recessive congenital ichthyosis 1
An autosomal recessive congenital ichthyosis characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has material basis in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.
- ARCI1
- bathing suit ichthyosis
- BSI
Statements
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Identifiers
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Sitelinks
Wikipedia(1 entry)
- dewiki Badeanzug-Ichthyose