Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C

Masaki Takagi; Saori Kaneko-Schmitt; Nobuhiro Suzumori; Gen Nishimura; Tomonobu Hasegawa

doi:10.1002/ajmg.a.34358

Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C

Masaki Takagi, Saori Kaneko-Schmitt, Nobuhiro Suzumori, Gen Nishimura, Tomonobu Hasegawa

Department of Pediatrics

Research output: Contribution to journal › Letter › peer-review

5 Citations (Scopus)

Original language	English
Pages (from-to)	247-250
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	158 A
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.34358
Publication status	Published - 2012 Jan

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C",

author = "Masaki Takagi and Saori Kaneko-Schmitt and Nobuhiro Suzumori and Gen Nishimura and Tomonobu Hasegawa",

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AU - Takagi, Masaki

AU - Kaneko-Schmitt, Saori

AU - Suzumori, Nobuhiro

AU - Nishimura, Gen

AU - Hasegawa, Tomonobu

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Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C

ASJC Scopus subject areas

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