CLCN7-related neuropathic infantile osteopetrosis in siblings

Jun Tachikawa; Yuya Takahashi; Masaki Miura; Yoshiki Soeno; Atsushi Tanaka

doi:10.1111/ped.14594

CLCN7-related neuropathic infantile osteopetrosis in siblings

Pediatr Int. 2021 Oct;63(10):1251-1252. doi: 10.1111/ped.14594. Epub 2021 Jul 14.

Authors

Jun Tachikawa¹, Yuya Takahashi², Masaki Miura³, Yoshiki Soeno³, Atsushi Tanaka³

Affiliations

¹ Department of Pediatrics, Saiseikai Niigata Hospital, Niigata, Japan.
² Department of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
³ Department of Pediatrics, Nagaoka Red Cross Hospital, Nagaoka, Japan.

PMID: 34258831
DOI: 10.1111/ped.14594

No abstract available

Keywords: CLCN7; autosomal recessive osteopetrosis; hematopoietic stem cell transplantation; magnetic resonance imaging; neurodegenerative diseases.

Publication types

Case Reports

MeSH terms

Chloride Channels / genetics*
Fatal Outcome
Female
Humans
Infant
Infant, Newborn
Male
Mutation
Osteopetrosis* / diagnosis
Osteopetrosis* / genetics
Siblings

Substances

CLCN7 protein, human
Chloride Channels