Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan‐specific pathogenic variant in SLC26A2-Reference-Cited by-同舟云学术

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan‐specific pathogenic variant in SLC26A2

Published:2019-12-27 Issue:4 Volume:182 Page:735-739
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Sato Taisuke¹²³^ORCID,Kojima Takashi⁴,Samura Osamu¹²^ORCID,Kawaguchi Satoshi⁴,Nakamura Akie⁵,Nakajima Masahiro⁶,Tanuma‐Takahashi Akiko¹,Nakabayashi Kazuhiko³,Hata Kenichiro³^ORCID,Ikegawa Shiro⁶,Nishimura Gen⁷,Okamoto Aikou¹,Yamada Takahiro⁴⁸

Affiliation:

1. Department of Obstetrics and GynecologyThe Jikei University School of Medicine Tokyo Japan

2. Department of Clinical GeneticsThe Jikei University Hospital Tokyo Japan

3. Department of Maternal‐Fetal BiologyNational Center for Child Health and Development Tokyo Japan

4. Department of ObstetricsHokkaido University Sapporo Hokkaido Japan

5. Department of PediatricsHokkaido University Sapporo Hokkaido Japan

6. Laboratory for Bone and Joint DiseasesRIKEN Center for Integrative Medical Sciences Tokyo Japan

7. Center for Intractable DiseasesSaitama Medical University Hospital Saitama Japan

8. Clinical Genetics UnitKyoto University Hospital Kyoto Sakyo‐ku Japan

Funder

National Center for Child Health and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61469

Reference11 articles.

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