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Links from Nucleotide

Items: 3

1.
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1
Stefanie Eggers, Katherine R Smith, Melanie Bahlo, Leendert HJ Looijenga, Stenvert LS Drop, Zulfa A Juniarto, Vincent R Harley, Peter Koopman, Sultana MH Faradz, Andrew H Sinclair
Eur J Hum Genet. 2015 Apr; 23(4): 486–493. Published online 2014 Aug 6. doi: 10.1038/ejhg.2014.130
PMCID:
PMC4666572
AbstractArticlePDF–1.7M
2.
46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5α-reductase type-2 (SRD5A2) gene
Bertha Chávez, Luis Ramos, Rita Gómez, Felipe Vilchis
Mol Genet Genomic Med. 2014 Jul; 2(4): 292–296. Published online 2014 Mar 16. doi: 10.1002/mgg3.76
PMCID:
PMC4113269
AbstractArticlePDF–168K
3.
Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene
Anna Biason-Lauber, Daniel Konrad, Monika Meyer, Carine deBeaufort, Eugen J. Schoenle
Am J Hum Genet. 2009 May 15; 84(5): 658–663. doi: 10.1016/j.ajhg.2009.03.016
PMCID:
PMC2680992
AbstractArticlePDF–494K

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