A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

BACKGROUND: Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, hypohidrosis and follicular atrophode...

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Veröffentlicht in:Orphanet J Rare Dis
Hauptverfasser: Youssefian, Leila, Touati, Andrew, Saeidian, Amir Hossein, Zargari, Omid, Zeinali, Sirous, Vahidnezhad, Hassan, Uitto, Jouni
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2017
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Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5717823/
https://ncbi.nlm.nih.gov/pubmed/29208051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0728-8
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