Metaphyseal dysplasia without hypotrichosis caused by RNA component of mitochondrial RNA-processing endoribonuclease (RMRP) gene variants: The first case in Korea

Ho Namgoong; Chang Seok Ki; Hyesun Hyun; Il Han Yoo; Won Kyoung Cho; Jung Hyun Lee; Jin Hee Oh

doi:10.3343/ALM.2021.41.3.346

Metaphyseal dysplasia without hypotrichosis caused by RNA component of mitochondrial RNA-processing endoribonuclease (RMRP) gene variants: The first case in Korea

Ho Namgoong
, Chang Seok Ki
, Hyesun Hyun
, Il Han Yoo
, Won Kyoung Cho
, Jung Hyun Lee
, Jin Hee Oh

Department of Pediatrics

The Catholic University of Korea, College of Medicine
GC Genome

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

1 Scopus citations

Original language	English
Pages (from-to)	346-349
Number of pages	4
Journal	Annals of Laboratory Medicine
Volume	41
Issue number	3
DOIs	https://doi.org/10.3343/ALM.2021.41.3.346
State	Published - May 2021

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10.3343/ALM.2021.41.3.346

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title = "Metaphyseal dysplasia without hypotrichosis caused by RNA component of mitochondrial RNA-processing endoribonuclease (RMRP) gene variants: The first case in Korea",

author = "Ho Namgoong and Ki, \{Chang Seok\} and Hyesun Hyun and Yoo, \{Il Han\} and Cho, \{Won Kyoung\} and Lee, \{Jung Hyun\} and Oh, \{Jin Hee\}",

year = "2021",

month = may,

doi = "10.3343/ALM.2021.41.3.346",

language = "English",

volume = "41",

pages = "346--349",

journal = "Annals of Laboratory Medicine",

issn = "2234-3806",

publisher = "Korean Society for Laboratory Medicine",

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T1 - Metaphyseal dysplasia without hypotrichosis caused by RNA component of mitochondrial RNA-processing endoribonuclease (RMRP) gene variants

T2 - The first case in Korea

AU - Namgoong, Ho

AU - Ki, Chang Seok

AU - Hyun, Hyesun

AU - Yoo, Il Han

AU - Cho, Won Kyoung

AU - Lee, Jung Hyun

AU - Oh, Jin Hee

PY - 2021/5

Y1 - 2021/5

UR - https://www.scopus.com/pages/publications/85098040918

U2 - 10.3343/ALM.2021.41.3.346

DO - 10.3343/ALM.2021.41.3.346

M3 - Letter

C2 - 33303724

AN - SCOPUS:85098040918

SN - 2234-3806

VL - 41

SP - 346

EP - 349

JO - Annals of Laboratory Medicine

JF - Annals of Laboratory Medicine

IS - 3

ER -

Metaphyseal dysplasia without hypotrichosis caused by RNA component of mitochondrial RNA-processing endoribonuclease (RMRP) gene variants: The first case in Korea

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