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CHILD-like syndrome
Breed: Mixed Breed
Generic Phene Data
Breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
CHILD-like syndrome
OMIA
2117
Gene Name
NSDHL
Mutation
no test 2020
Mutation 2
g.120749179_120763577del14
Mutation 4
g.120752468G>A
Mutation 5
c.700G>A
Mutation 6
g.120752486_120752490delGAACA
Mutation 7
c.718_722delGAACA
Test Type
Genetic Disease/Disorder
Published
2017 Bauer, A., De Lucia, M., Jagannathan, V., Mezzalira, G., Casal, M.L., Welle, M.M., Leeb, T. : A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder. G3 (Bethesda) 7:3115-3121, 2017. Pubmed reference: 28739597. DOI: 10.1534/g3.117.1124.
Published 2
2019 Leuthard, F., Lehner, G., Jagannathan, V., Leeb, T., Welle, M. : A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi. Anim Genet 50:768-771, 2019. Pubmed reference: 31571289. DOI: 10.1111/age.12862.
Published 3
2019 De Lucia, M., Angileri, M., Bauer, A., Spycher, M., Jaggannathan, V., Denti, D., Di Diodoro, F., Ferro, S., Mezzalira, G., Welle, M., Leeb, T., De Lucia, M., Angileri, M., Bauer, A., Spycher, M., Jaggannathan, V., Denti, D., Di Diodoro, F., Ferro, S., Mezzalira, G., Welle, M., Leeb, T. : X-linked cutaneous mosaicism in a dog. Vet Dermatol 30:361-362, 2019. Pubmed reference: 31012178. DOI: 10.1111/vde.12748.
Published 4
2020 Christen, M., Austel, M., Banovic, F., Jagannathan, V., Leeb, T. : NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi. Genes (Basel) 11:, 2020. Pubmed reference: 33143176. DOI: 10.3390/genes11111297.
OMIA Url
Inheritance
XSD
Breed Specific Info
Researched Breeds
Chihuahua, Labrador Retriever, Mixed breed
HSP Test-Specific Data
No Test/Unknown GTP availability
GTP
Breed
OMIA
Gene Name
NSDHL
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