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Article

The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.

Clinical dysmorphology - 1 Jan 2019

Fukuhara Yasuyuki, Cho Sung Y, Miyazaki Osamu, Hattori Atsushi, Seo Joo-Hyun, Mashima Ryuichi, Kosuga Motomichi, Fukami Maki, Jin Dong-Kyu, Okuyama Torayuki, Nishimura Gen

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PMID: 30124491
DOI: 10.1097/MCD.0000000000000241
PMCID: PMC6276860

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