The detail information of Hyperkeratosis, epidermolytic
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2005

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB167 Norfolk Terrier 22.9-25.4 cm 5-5.4 kg United Kingdom
Associated Gene
Symbol Description Species Position Other Links
KRT10 keratin 10, type I Canis lupus familiaris Chr9 : 22656504 - 22661353 Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2005 Barnhart,KF.,Credille,KM.,Ambrus,A.,Dunstan,RW.: :
Preservation of phenotype in an organotypic cell culture model of a recessive keratinization defect of Norfolk terrier dogs. Exp Dermatol 14:481-90, 2005.
Pubmed reference: 15946235 . DOI: 10.1111/j.0906-6705.2005.00306.x .
2005 Credille,KM.,Barnhart,KF.,Minor,JS.,Dunstan,RW.: :
Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. Br J Dermatol 153:51-8, 2005.
Pubmed reference: 16029326 . DOI: 10.1111/j.1365-2133.2005.06735.x .
2004 Barnhart,KF.,Credille,KM.,Ambrus,A.,Dunstan,RW.: :
A heritable keratinization defect of the superficial epidermis in norfolk terriers. J Comp Pathol 130:246-54, 2004.
Pubmed reference: 15053927 . DOI: 10.1016/j.jcpa.2003.11.003 .
2000 Mecklenburg,L.,Hetzel,U.,Ueberschär,S.: :
Epidermolytic ichthyosis in a dog: clinical, histopathological, immunohistochemical and ultrastructural findings. J Comp Pathol 122:307-11, 2000.
Pubmed reference: 10805985 . DOI: 10.1053/jcpa.1999.0371 .