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Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening.
Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1388-92. doi: 10.1590/s0004-27302008000800030.
Arq Bras Endocrinol Metabol. 2008.
PMID: 19169499
Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
Coeli FB, Soardi FC, Bernardi RD, de Araújo M, Paulino LC, Lau IF, Petroli RJ, de Lemos-Marini SH, Baptista MT, Guerra-Júnior G, de-Mello MP.
Coeli FB, et al. Among authors: bernardi rd.
BMC Med Genet. 2010 Jun 29;11:104. doi: 10.1186/1471-2350-11-104.
BMC Med Genet. 2010.
PMID: 20587039
Free PMC article.
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The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development.
Cunha JL, Soardi FC, Bernardi RD, Oliveira LE, Benedetti CE, Guerra-Junior G, Maciel-Guerra AT, de Mello MP.
Cunha JL, et al. Among authors: bernardi rd.
Braz J Med Biol Res. 2011 Apr;44(4):361-5. doi: 10.1590/s0100-879x2011007500017. Epub 2011 Feb 11.
Braz J Med Biol Res. 2011.
PMID: 21344134
Free article.
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