Japanese siblings with cartilage-hair hypoplasia exhibiting different severity

Pediatr Int. 2023 Jan-Dec;65(1):e15557. doi: 10.1111/ped.15557.

Authors

Naonori Kumagai¹, Yusuke Funato¹, Manabu Wakamatsu², Hideki Muramatsu², Haruo Mizuno¹

Affiliations

¹ Department of Pediatrics, School of Medicine, Fujita Health University, Toyoake, Japan.
² Department of Pediatrics, Graduate School of Medicine, Nagoya University, Nagoya, Japan.

PMID: 37365876
DOI: 10.1111/ped.15557

No abstract available

Keywords: cartilage-hair hypoplasia; immunodeficiency; newborn screening; ribonuclease mitochondrial RNA processing gene; short stature.

Publication types

Case Reports

MeSH terms

East Asian People
Hair / abnormalities
Hirschsprung Disease* / diagnosis
Humans
Immunologic Deficiency Syndromes*
Osteochondrodysplasias* / diagnosis
Osteochondrodysplasias* / genetics
Primary Immunodeficiency Diseases* / diagnosis
Siblings

Supplementary concepts

Cartilage-hair hypoplasia