Gene mutations associated with anomalies of human gonad formation.
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Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular TissuesThe differential role of androgens in early human sex development.46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome SequencingTargeted next-generation sequencing identification of mutations in patients with disorders of sex development.Hedgehog signaling and steroidogenesis.Management of disorders of sex development.Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual developmentLoss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.
P2860
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P2860
Gene mutations associated with anomalies of human gonad formation.
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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Gene mutations associated with anomalies of human gonad formation.
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Gene mutations associated with anomalies of human gonad formation.
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prefLabel
Gene mutations associated with anomalies of human gonad formation.
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P2860
P356
P1433
P1476
Gene mutations associated with anomalies of human gonad formation.
@en
P2093
A Bashamboo
K McElreavey
P2860
P304
P356
10.1159/000342188
P577
2012-10-03T00:00:00Z