Non-coding variation in disorders of sex development.

about

XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris).Disorders of sex development.

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P2860

Non-coding variation in disorders of sex development.

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

Non-coding variation in disorders of sex development.

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Non-coding variation in disorders of sex development.

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Non-coding variation in disorders of sex development.

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P1476

Non-coding variation in disorders of sex development

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E De Baere

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H Verdin

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P2860

FOXL2 mutation screening in a large panel of POF patients and XX males

A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Identification of SOX3 as an XX male sex reversal gene in mice and humans

A clinical and genetic study of campomelic dysplasia.

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia

Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation

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163-172

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scholarly article

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10.1111/CGE.12911

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Martine Cools

Berenice Bilharinho Mendonca

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2017-02-01T00:00:00Z

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27801941

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Non-coding variation in disorders of sex development.

about

P2860

P2860

Non-coding variation in disorders of sex development.

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