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Literature DB >> 32277509

Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9.

Naoto Nishimura^1,2, Hiroaki Murakami¹, Tomoko Hayashi³, Hironobu Sato³, Kenji Kurosawa¹.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2020 PMID： 32277509 DOI： 10.1111/cga.12371

Source DB: PubMed Journal: Congenit Anom (Kyoto) ISSN： 0914-3505 Impact factor: 1.409

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1. Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.

Authors: Moe Akahira-Azuma; Yumi Enomoto; Naoyuki Nakamura; Takayuki Yokoi; Mari Minatogawa; Noriaki Harada; Yoshinori Tsurusaki; Kenji Kurosawa
Journal: Hum Genome Var Date: 2022-05-17

1 in total