Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing

Joonhong Park; Woori Jang; Eunhee Han; Hyojin Chae; Jaeeun Yoo; Yonggoo Kim; Yoo Jin Kim; Myungshin Kim

doi:10.1002/pbc.27053

Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing

Joonhong Park
, Woori Jang
, Eunhee Han
, Hyojin Chae
, Jaeeun Yoo
, Yonggoo Kim
, Yoo Jin Kim
, Myungshin Kim

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

11 Scopus citations

Original language	English
Article number	e27053
Journal	Pediatric Blood and Cancer
Volume	65
Issue number	7
DOIs	https://doi.org/10.1002/pbc.27053
State	Published - Jul 2018

Bibliographical note

Funding Information:
We are grateful to the patient and his family members, and The Catholic Genetic Laboratory Center for assisting us to carry out the present study and for compiling the report. This study was supported by a grant from the Korea Health Technology R&D Project, Ministry of Health and Welfare, Republic of Korea (A120175).

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10.1002/pbc.27053

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@article{564ca8e4a1d242d584d976bb8a24dbf1,

title = "Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing",

author = "Joonhong Park and Woori Jang and Eunhee Han and Hyojin Chae and Jaeeun Yoo and Yonggoo Kim and Kim, \{Yoo Jin\} and Myungshin Kim",

note = "Funding Information: We are grateful to the patient and his family members, and The Catholic Genetic Laboratory Center for assisting us to carry out the present study and for compiling the report. This study was supported by a grant from the Korea Health Technology R\&D Project, Ministry of Health and Welfare, Republic of Korea (A120175).",

year = "2018",

month = jul,

doi = "10.1002/pbc.27053",

language = "English",

volume = "65",

journal = "Pediatric Blood and Cancer",

issn = "1545-5009",

publisher = "Wiley-Liss Inc.",

number = "7",

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TY - JOUR

T1 - Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing

AU - Park, Joonhong

AU - Jang, Woori

AU - Han, Eunhee

AU - Chae, Hyojin

AU - Yoo, Jaeeun

AU - Kim, Yonggoo

AU - Kim, Yoo Jin

AU - Kim, Myungshin

N1 - Funding Information: We are grateful to the patient and his family members, and The Catholic Genetic Laboratory Center for assisting us to carry out the present study and for compiling the report. This study was supported by a grant from the Korea Health Technology R&D Project, Ministry of Health and Welfare, Republic of Korea (A120175).

PY - 2018/7

Y1 - 2018/7

UR - https://www.scopus.com/pages/publications/85044641912

U2 - 10.1002/pbc.27053

DO - 10.1002/pbc.27053

M3 - Letter

C2 - 29603612

AN - SCOPUS:85044641912

SN - 1545-5009

VL - 65

JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

IS - 7

M1 - e27053

ER -

Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing

Bibliographical note

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