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Hypocalcemic rickets is a group of disorders in which the body cannot absorb enough calcium, leading to skeletal defects and other symptoms.
Working days 10
Specifiche
Breeds | |
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Gene | |
Organ | |
specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
Also known as | |
Year Published |
Informazioni generali
Hypocalcemic rickets is a group of disorders in which the body cannot absorb enough calcium, leading to skeletal defects and other symptoms. While most are caused by a lack of Vitamin D, this variant in the Pomeranian (VDDR-2A or HVDRR) is instead caused by a recessive mutation to the gene VDR.
Caratteristiche cliniche
The main symptom of HVDRR is hypocalcemia (low calcium levels), resulting in weakened and deformed limbs and intermittent lameness. Alopecia (hair loss) on the head, chest and limbs can also appear.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 19909429
Omia ID: 1431