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Hypotrichosis, Recessive

General

Disease Name
Hypotrichosis, Recessive
OMIA
1279
Gene Name
SGK3
Mutation
p.Val96GlyfsTer50
Mutation 2
g.16366702_16366705delTTAG
Mutation 3
c.283-286del TTAG
OMIM
146520
Test Type
Genetic Disease/Disorder
Details
Causing a loss of hair that is more than normal - not to be confused with hair loss/absence as in alopecia. This can be patchy or have a growth (or lack of growth) pattern in some breeds. Age of onset starting from birth to a few months old.
Details 2
Causing a loss of hair that is more than normal. This can be patchy or have a growth (or lack of growth) pattern in some breeds. Not to be confused with alopecia. Age of onset starting from birth to a few months old. May have associations with dental loss, or impacting sweat glands.
Published
Parker, H.G., Harris, A., Dreger, D.L., Davis, B.W., Ostrander, E.A. : The bald and the beautiful: hairlessness in domestic dog breeds. Philos Trans R Soc Lond B Biol Sci 372:, 2017. Pubmed reference: 27994129. DOI: 10.1098/rstb.2015.0488.
Body/System/Process
Coat Colour/Pattern/Type
Inheritance
AR
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