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X-linked ectodermal dysplasia is characterised by abnormal hair, teeth, nails or sweat gland function.
10 working days
Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
X-linked ectodermal dysplasia is characterised by abnormal hair, teeth, nails or sweat gland function. These tissue types all share a similar tissue origin: the ectoderm. Multiple mutations in the DNA can cause this disease and in case the mutation(s) are on the X-chromosome, it is X-linked.
Clinical features
Abnormal growth of tissue and organs derived from ectoderm: hair, teeth, nails, sweat glands, ears, eyes, lips, mucous membranes of the mouth or nose, and the central nervous system.
Additional information
Male offspring are at high risk due to the single X-chromosome present.
References
Pubmed ID: 16151697
Omia ID: 543
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