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Article

Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1.

Journal of dermatological science - 1 Aug 2009

Esposito G, De Falco F, Brazzelli V, Montanari L, Larizza D, Salvatore F

Abstract excerpt

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Topics

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Share to Codon, Nonsense
Share to Congenital Hypothyroidism
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Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ichthyosis, Lamellar

Share to Severity of Illness Index

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Source

Identifiers

PMID: 19556108
DOI: 10.1016/j.jdermsci.2009.05.002

Genes

TGM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1.PMID 19556108Read ↗

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Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.Semantic proximity Read ↗

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