Familial acanthosis nigricans with p.K650T FGFR3 mutation.

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Familial acanthosis nigricans with p.K650T FGFR3 mutation.

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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

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2017年學術文章

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2017年學術文章

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Familial acanthosis nigricans with p.K650T FGFR3 mutation.

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Familial acanthosis nigricans with p.K650T FGFR3 mutation.

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label

Familial acanthosis nigricans with p.K650T FGFR3 mutation.

@en

Familial acanthosis nigricans with p.K650T FGFR3 mutation.

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Familial acanthosis nigricans with p.K650T FGFR3 mutation.

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Familial acanthosis nigricans with p.K650T FGFR3 mutation.

@nl

P1476

Familial acanthosis nigricans with p.K650T FGFR3 mutation.

@en

P2093

Kayo Matsushita

http://www.w3.org/2001/XMLSchema#string

Kazuki Tatsuno

http://www.w3.org/2001/XMLSchema#string

Kensuke Fukuchi

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P2860

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

Long-term survival in typical thanatophoric dysplasia type 1.

Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.

Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.

FGFR3 and PIK3CA mutations are involved in the molecular pathogenesis of solar lentigo.

Familial acanthosis nigricans due to K650T FGFR3 mutation.

Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.

P304

207-210

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P31

scholarly article

P356

10.1111/1346-8138.14107

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Akiharu Kubo

Taisuke Ito

Yoshiki Tokura

P577

2017-10-25T00:00:00Z

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P698

29068064

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