Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.

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Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.

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http://www.wikidata.org/entity/Q50133432

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

@zh-my

2017年学术文章

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2017年學術文章

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2017年學術文章

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name

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.

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Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.

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type

Item

label

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.

@en

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.

@nl

prefLabel

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.

@en

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.

@nl

P1476

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.

@en

P2093

Maria I Stamou

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Neoklis A Georgopoulos

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P2860

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

Variations in pattern of pubertal changes in girls

Variations in the pattern of pubertal changes in boys

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome

P31

scholarly article

P356

10.1016/J.METABOL.2017.10.012

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P577

2017-11-03T00:00:00Z

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P698

29108899

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P921

hypogonadism

P932

5934335

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