Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.
Ahmad F et al.
European Journal of Dermatology : Ejd, 2018
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
Youssefian L et al.
Orphanet Journal of Rare Diseases, 2017
Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.
Rasheed M et al.
Archives of Dermatological Research, 2017
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
Bastaki F et al.
International Journal of Dermatology, 2017
A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome.
Bauer A et al.
G3 (bethesda, Md.), 2017
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature.
Neri I et al.
Journal of Dermatological Science, 2016
Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.
Takeichi T et al.
The British Journal of Dermatology, 2015
Epithelial integrity is maintained by a matriptase-dependent proteolytic pathway.
List K et al.
The American Journal of Pathology, 2009
Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing.
Alef T et al.
The Journal of Investigative Dermatology, 2009
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