Japanese siblings with cartilage-hair hypoplasia exhibiting different severity

Naonori Kumagai; Yusuke Funato; Manabu Wakamatsu; Hideki Muramatsu; Haruo Mizuno

doi:10.1111/ped.15557

Japanese siblings with cartilage-hair hypoplasia exhibiting different severity

Naonori Kumagai
, Yusuke Funato
, Manabu Wakamatsu
, Hideki Muramatsu
, Haruo Mizuno

Pediatrics

Research output: Contribution to journal › Comment/debate › peer-review

Original language	English
Article number	e15557
Journal	Pediatrics International
Volume	65
Issue number	1
DOIs	https://doi.org/10.1111/ped.15557
Publication status	Published - 01-01-2023

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health

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10.1111/ped.15557

Cite this

@article{3e4217af66dc4e49b1f3ba7285dfa756,

title = "Japanese siblings with cartilage-hair hypoplasia exhibiting different severity",

keywords = "cartilage-hair hypoplasia, immunodeficiency, newborn screening, ribonuclease mitochondrial RNA processing gene, short stature",

author = "Naonori Kumagai and Yusuke Funato and Manabu Wakamatsu and Hideki Muramatsu and Haruo Mizuno",

year = "2023",

month = jan,

day = "1",

doi = "10.1111/ped.15557",

language = "English",

volume = "65",

journal = "Pediatrics International",

issn = "1328-8067",

publisher = "John Wiley and Sons Inc.",

number = "1",

}

TY - JOUR

T1 - Japanese siblings with cartilage-hair hypoplasia exhibiting different severity

AU - Kumagai, Naonori

AU - Funato, Yusuke

AU - Wakamatsu, Manabu

AU - Muramatsu, Hideki

AU - Mizuno, Haruo

PY - 2023/1/1

Y1 - 2023/1/1

KW - cartilage-hair hypoplasia

KW - immunodeficiency

KW - newborn screening

KW - ribonuclease mitochondrial RNA processing gene

KW - short stature

UR - https://www.scopus.com/pages/publications/85163295363

UR - https://www.scopus.com/pages/publications/85163295363#tab=citedBy

U2 - 10.1111/ped.15557

DO - 10.1111/ped.15557

M3 - Comment/debate

C2 - 37365876

AN - SCOPUS:85163295363

SN - 1328-8067

VL - 65

JO - Pediatrics International

JF - Pediatrics International

IS - 1

M1 - e15557

ER -

Japanese siblings with cartilage-hair hypoplasia exhibiting different severity

All Science Journal Classification (ASJC) codes

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