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Article

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

American journal of medical genetics. Part A - 1 Jan 2012

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

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Share to Achondroplasia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Receptor, Fibroblast Growth Factor, Type 3

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Identifiers

PMID: 22106050
DOI: 10.1002/ajmg.a.34358

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Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C.PMID 22106050Read ↗

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[Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia].Semantic proximity Read ↗

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