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OMIA 000348-9913 : Epitheliogenesis imperfecta in Bos taurus

In other species: domestic cat , horse , sheep , pig , water buffalo

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 107600 (trait) , 600360 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: Congenital absence of the skin.

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 Yeruhama, I., Goshen, T., Lahav, D., Perl, S. :
Simultaneous occurrence of epitheliogenesis imperfecta with syndactyly in a calf and a lamb. Aust Vet J 83:149-50, 2005. Pubmed reference: 15825625.
2004 Dalir-Naghadeh, B., Seifi, HA., Farshid, AA. :
Congenital bovine epitheliogenesis imperfecta: a report of three cases from Iran. J Vet Med A Physiol Pathol Clin Med 51:409-12, 2004. Pubmed reference: 15610482. DOI: 10.1111/j.1439-0442.2004.00670.x.
1993 Agerholm, J.S., Basse, A., Christensen, K. :
Investigations on the occurrence of hereditary diseases in the Danish cattle population 1989-1991 Acta Veterinaria Scandinavica 34:245-253, 1993. Pubmed reference: 8310897.
1989 Frey, J., Chamson, A., Gourreau, JM., Gillet, JP. :
Collagen and lipid biosynthesis in a case of epitheliogenesis imperfecta in cattle. J Invest Dermatol 93:83-6, 1989. Pubmed reference: 2746007.
1987 Fordyce, G., Holroyd, R.G., Beaman, N.J., James, T.A., Hoffman, D., Shepherd, R.K. :
The prevalence of epitheliogenesis imperfecta in Sahiwal cattle and their crosses in a north Queensland beef herd Australian Journal of Agricultural Research 38:427-435, 1987.
1979 Jayasekara, MU., Leipold, HW. :
Epitheliogenesis imperfecta imperfecta in Shorthorn and Angus cattle. Zentralbl Veterinarmed A 26:497-501, 1979. Pubmed reference: 120661.
1973 Leipold, HW., Mills, JH., Huston, K. :
Epitheliogenesis imperfecta in Holstein-Friesian calves. Can Vet J 14:114-8, 1973. Pubmed reference: 4739947.
1960 Blokhuis, J. :
Epitheliogenesis imperfecta in an eight month bovine foetus Tijdschrift voor Diergeneeskunde 85:334-336, 1960.
1935 Wipprecht, C., Horlacher, W.R. :
A lethal gene in Jersey cattle Journal of Heredity 26:363-368, 1935.
1934 Hutt, F.B. :
Inherited lethal characters in domestic animals Cornell Veterinarian 24:1-25, 1934.
1927 Hadley, F.B. :
Congenital epithelial defects of calves. Epitheliogenesis imperfecta neonatorum bovis - a recessive brought to light by inbreeding Journal of Heredity 18:487-495, 1927.

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  • Created by Frank Nicholas on 06 Sep 2005