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this deseas is so rare about three dozen people in the wold have it.
this is a interprattion of the abcc9 gene
Cantu syndrome is caused by a mutation in the ABCC9 gene which helps spread potassium throughout the body. The mutation causes the (ABCC9) gene to open the (potassium) channel when it should be closed and close the channel when it should be open which leads to cantú syndrome (“Cantú Syndrome”). Scientists are unsure how this mutation leads to most of the effects of Cantu syndrome because most areas of the body it affects do not need potassium, yet the mutation is the one thing that stays consistent throughout all the cases.
“Cantú Syndrome: MedlinePlus Genetics.” MedlinePlus, U.S.National Library of Medicine, 18 Aug. 2020, medlineplus.gov/genetics/condition/cantu syndrome/#causes.
some times this disease is called werewolf syndrome
Cantu syndrome is a developmental disorder which means most symptoms affect your appearance, some of these symptoms include corace facial features, a change in skeletal structure, hypertrichosis excess hair growth, and macrocephaly which causes you to be born with an overly large head. Other symptoms for cantu syndrome affect your inner body like cardiovascular anomalies (heart defects) and heterogeneous having two different alleles (multiple of a gene) of a particular gene or genes (Kortrum).
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This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ABCC9 gene in each cell is sufficient to cause the disorder (“Cantú Syndrome”). Almost all cases of cantu syndrome involve a new mutation in the gene or no records of anyone in the family having the syndrome before. Only a few cases have been reported of cantu syndrome being inherited through family members, but scientists are unsure if this is true or just a coincidence.
Works cited
“Cantú Syndrome: MedlinePlus Genetics.” MedlinePlus, U.S. i National Library of Medicine, 18 Aug. 2020, i i i i i in i i imedlineplus.gov/genetics/condition/cantu syndrome/iiiiii#causes.
Kortüm, Fanny, et al. “Cantú Syndrome versus i i i i i i i i i i Zimmermann-Laband Syndrome: Report of Nine
Individuals with ABCC9 Variants.” European Journal of i i Medical Genetics, vol. 63, no.
9, Sept. 2020, p. 103996. EBSCOhost, doi:10.1016/ i i i i ii i i ii j.ejmg.2020.103996.
lupen in where wolf form. digital image. pngitem. https:// i www.pngitem.com/middle/JxxiRw_werewolf-png-i i i i i i games-cg-artwork-demon-background-harry/