A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome-Reference-Cited by-同舟云学术

A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome

Author:

Miyake N.¹^ORCID,Ozasa S.²,Mabe H.²,Kimura S.³,Shiina M.⁴,Imagawa E.¹,Miyatake S.¹,Nakashima M.¹,Mizuguchi T.¹,Takata A.¹,Ogata K.⁴,Matsumoto N.¹

Affiliation:

1. Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan

2. Department of Pediatrics Kumamoto University Kumamoto Japan

3. Kumamoto City Child Development Support Center Kumamoto Japan

4. Department of Biochemistry Yokohama City University Graduate School of Medicine Yokohama Japan

Funder

Japan Agency for Medical Research and Development

Ministry of Health, Labour and Welfare

Ministry of Education, Culture, Sports, Science and Technology

Japan Science and Technology Agency

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

Reference5 articles.

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