Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome

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Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome

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2015 nî lūn-bûn

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2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

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Novel FOXL2 mutations in two C ...... s-epicanthus inversus syndrome

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Novel FOXL2 mutations in two C ...... s-epicanthus inversus syndrome

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label

Novel FOXL2 mutations in two C ...... s-epicanthus inversus syndrome

@ast

Novel FOXL2 mutations in two C ...... s-epicanthus inversus syndrome

@en

prefLabel

Novel FOXL2 mutations in two C ...... s-epicanthus inversus syndrome

@ast

Novel FOXL2 mutations in two C ...... s-epicanthus inversus syndrome

@en

P1476

Novel FOXL2 mutations in two C ...... s-epicanthus inversus syndrome

@en

P2093

J Fielding Hejtmancik

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Jie Zheng

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Min Xue

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Qing Zhou

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Shouling Li

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Yuan Wang

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P2860

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Identification of novel mutations in FOXL2 associated with premature ovarian failure

Evolution and expression of FOXL2

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

FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients

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

A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid

Forkhead transcription factors: key players in development and metabolism

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)

FOXL2 impairment in human disease.

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s12881-015-0217-7

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scholarly article

P356

10.1186/S12881-015-0217-7

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2015-09-01T00:00:00Z

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281519006

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1017869505

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