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

N. Miyake; S. Ozasa; H. Mabe; S. Kimura; M. Shiina; E. Imagawa; S. Miyatake; M. Nakashima; T. Mizuguchi; A. Takata; K. Ogata; N. Matsumoto

doi:10.1111/cge.13105

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

N. Miyake, S. Ozasa, H. Mabe, S. Kimura, M. Shiina, E. Imagawa, S. Miyatake, M. Nakashima, T. Mizuguchi, A. Takata, K. Ogata, N. Matsumoto

Research output: Contribution to journal › Letter › peer-review

20 Scopus citations

Original language	English
Pages (from-to)	929-930
Number of pages	2
Journal	Clinical Genetics
Volume	93
Issue number	4
DOIs	https://doi.org/10.1111/cge.13105
State	Published - Apr 2018
Externally published	Yes

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10.1111/cge.13105

Cite this

@article{391bccbcfb2f49f39a91c1a234e40f37,

title = "A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome",

author = "N. Miyake and S. Ozasa and H. Mabe and S. Kimura and M. Shiina and E. Imagawa and S. Miyatake and M. Nakashima and T. Mizuguchi and A. Takata and K. Ogata and N. Matsumoto",

year = "2018",

month = apr,

doi = "10.1111/cge.13105",

language = "English",

volume = "93",

pages = "929--930",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell Publishing Ltd",

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TY - JOUR

T1 - A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome

AU - Miyake, N.

AU - Ozasa, S.

AU - Mabe, H.

AU - Kimura, S.

AU - Shiina, M.

AU - Imagawa, E.

AU - Miyatake, S.

AU - Nakashima, M.

AU - Mizuguchi, T.

AU - Takata, A.

AU - Ogata, K.

AU - Matsumoto, N.

PY - 2018/4

Y1 - 2018/4

UR - http://www.scopus.com/inward/record.url?scp=85043977351&partnerID=8YFLogxK

U2 - 10.1111/cge.13105

DO - 10.1111/cge.13105

M3 - Letter

C2 - 28975623

AN - SCOPUS:85043977351

SN - 0009-9163

VL - 93

SP - 929

EP - 930

JO - Clinical Genetics

JF - Clinical Genetics

IS - 4

ER -