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Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous CA2 deletion.
Intractable Rare Dis Res. 2023 Aug;12(3):202-205. doi: 10.5582/irdr.2023.01033.
Intractable Rare Dis Res. 2023.
PMID: 37662627
Free PMC article.
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.
Yamaguti PM, Neves FA, Hotton D, Bardet C, de La Dure-Molla M, Castro LC, Scher MD, Barbosa ME, Ditsch C, Fricain JC, de La Faille R, Figueres ML, Vargas-Poussou R, Houillier P, Chaussain C, Babajko S, Berdal A, Acevedo AC.
Yamaguti PM, et al. Among authors: scher md.
J Med Genet. 2017 Jan;54(1):26-37. doi: 10.1136/jmedgenet-2016-103956. Epub 2016 Aug 16.
J Med Genet. 2017.
PMID: 27530400
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