A case of antley-bixler syndrome with a novel likely pathogenic variant (c.529G>C) in the POR gene

Jongwon Oh; Ju Sun Song; Jong Eun Park; Shin Yi Jang; Chang Seok Ki; Duk Kyung Kim

doi:10.3343/alm.2017.37.6.559

A case of antley-bixler syndrome with a novel likely pathogenic variant (c.529G>C) in the POR gene

Jongwon Oh
, Ju Sun Song
, Jong Eun Park
, Shin Yi Jang
, Chang Seok Ki
, Duk Kyung Kim

Department of Anesthesiology and Pain Medicine

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

14 Scopus citations

Original language	English
Pages (from-to)	559-562
Number of pages	4
Journal	Annals of Laboratory Medicine
Volume	37
Issue number	6
DOIs	https://doi.org/10.3343/alm.2017.37.6.559
State	Published - Nov 2017

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10.3343/alm.2017.37.6.559

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@article{ac999ac3d61441ed9ccb07e18aa53a37,

title = "A case of antley-bixler syndrome with a novel likely pathogenic variant (c.529G>C) in the POR gene",

author = "Jongwon Oh and Song, \{Ju Sun\} and Park, \{Jong Eun\} and Jang, \{Shin Yi\} and Ki, \{Chang Seok\} and Kim, \{Duk Kyung\}",

year = "2017",

month = nov,

doi = "10.3343/alm.2017.37.6.559",

language = "English",

volume = "37",

pages = "559--562",

journal = "Annals of Laboratory Medicine",

issn = "2234-3806",

publisher = "Korean Society for Laboratory Medicine",

number = "6",

}

TY - JOUR

T1 - A case of antley-bixler syndrome with a novel likely pathogenic variant (c.529G>C) in the POR gene

AU - Oh, Jongwon

AU - Song, Ju Sun

AU - Park, Jong Eun

AU - Jang, Shin Yi

AU - Ki, Chang Seok

AU - Kim, Duk Kyung

PY - 2017/11

Y1 - 2017/11

UR - https://www.scopus.com/pages/publications/85029926235

U2 - 10.3343/alm.2017.37.6.559

DO - 10.3343/alm.2017.37.6.559

M3 - Letter

C2 - 28841001

AN - SCOPUS:85029926235

SN - 2234-3806

VL - 37

SP - 559

EP - 562

JO - Annals of Laboratory Medicine

JF - Annals of Laboratory Medicine

IS - 6

ER -

A case of antley-bixler syndrome with a novel likely pathogenic variant (c.529G>C) in the POR gene

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