Gene mutations associated with anomalies of human gonad formation.

Gene mutations associated with anomalies of human gonad formation.

Item
http://www.wikidata.org/entity/Q38049482
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

Gene mutations associated with anomalies of human gonad formation.

Item
http://www.wikidata.org/entity/Q38049482
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Gene mutations associated with anomalies of human gonad formation.
@en
type
label
Gene mutations associated with anomalies of human gonad formation.
@en
prefLabel
Gene mutations associated with anomalies of human gonad formation.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P356
P1433
P1476
Gene mutations associated with anomalies of human gonad formation.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698