Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.
about
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic developmentDiscovery of transcriptional regulators and signaling pathways in the developing pituitary gland by bioinformatic and genomic approaches.Genetic regulation of pituitary gland development in human and mouseThe use of neuroimaging for assessing disorders of pituitary development.Septo-optic dysplasiaNeuroendocrine causes of amenorrhea--an update.Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringGenetic Overlap between Holoprosencephaly and Kallmann Syndrome.SOX2 regulates the hypothalamic-pituitary axis at multiple levelsSepto-optic dysplasia - novel insights into the aetiology.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
P2860
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P2860
Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Hypogonadotropic hypogonadism ...... hypomorphic mutation of SOX2.
@en
Hypogonadotropic hypogonadism ...... hypomorphic mutation of SOX2.
@nl
type
label
Hypogonadotropic hypogonadism ...... hypomorphic mutation of SOX2.
@en
Hypogonadotropic hypogonadism ...... hypomorphic mutation of SOX2.
@nl
prefLabel
Hypogonadotropic hypogonadism ...... hypomorphic mutation of SOX2.
@en
Hypogonadotropic hypogonadism ...... hypomorphic mutation of SOX2.
@nl
P2093
P356
P1476
Hypogonadotropic hypogonadism ...... s hypomorphic mutation of SOX2
@en
P2093
Hisato Kondoh
Ken-ichirou Morohashi
Naoko Sato
Reiko Horikawa
Yuichi Shima
P304
P356
10.1530/EJE-06-0606
P577
2007-02-01T00:00:00Z