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RMRP-related Short Stature: A Report of Six Additional Japanese Individuals with Cartilage Hair Hypoplasia and Literature Review

Noboru Uchida,Tomohiro Ishii,Gen Nishimura,Takeshi Sato,Gen Kuratsuji,Keisuke Nagasaki,Yuki Hosokawa,Eriko Adachi,Kei Takasawa,Kenichi Kashimada,Yuko Tsujioka,Tomonobu Hasegawa

American Journal of Medical Genetics Part A（2024）

Cited 0|Views15
Key words
cartilage-hair hypoplasia,metaphyseal dysplasia,RMRP,short stature
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