Autosomal recessive cutis laxa type 1C with a compound heterozygous frame shift and nonsense <i>LTBP4</i> variants

The authors declare no conflicts of interest. Table S1. Comparison of the present case with previously reported cases of ARCL1C. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Authors

Makoto Ishitate
Hiroshi Yoshihashi (ORCID: https://orcid.org/0000-0003-1727-625X)
Toshiki Nakamura (ORCID: https://orcid.org/0009-0007-8725-6277)
Toshiki Takenouchi (ORCID: https://orcid.org/0000-0002-7311-4135)
Tatsuo Kono
Hiroshi Hataya (ORCID: https://orcid.org/0000-0003-0241-6467)
Keiko Shoburu

Institutions

Okayama University (JP)
Keio University (JP)
Tokyo Metropolitan Children's Medical Center (JP)

Publication Details

Journal: Pediatrics International
Published: 2025-01-01
DOI: https://doi.org/10.1111/ped.15893
Primary Topic: Connective tissue disorders research
Type: article
Field-Weighted Citation Impact: 0.00

Funders

Japan Agency for Medical Research and Development
Japan Society for the Promotion of Science

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article

Autosomal recessive cutis laxa type 1C with a compound heterozygous frame shift and nonsense LTBP4 variants

Makoto Ishitate, Hiroshi Yoshihashi, Toshiki Nakamura, Toshiki Takenouchi et al.

Jan 1, 2025

Pediatrics International

Connective tissue disorders research

article

Autosomal recessive cutis laxa type 1C with a compound heterozygous frame shift and nonsense LTBP4 variants

Makoto Ishitate, Hiroshi Yoshihashi, Toshiki Nakamura, Toshiki Takenouchi, Tatsuo Kono, Hiroshi Hataya, Keiko Shoburu

January 1, 2025article en

Abstract

The authors declare no conflicts of interest. Table S1. Comparison of the present case with previously reported cases of ARCL1C. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Pediatrics InternationalVol. 67(1)

Okayama University (JP), Keio University (JP), Tokyo Metropolitan Children's Medical Center (JP)

Japan Agency for Medical Research and Development, Japan Society for the Promotion of Science

Zero hunger

Openalex Percentile: Top 92%

Connective tissue disorders research

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Autosomal recessive cutis laxa type 1C with a compound heterozygous frame shift and nonsense <i>LTBP4</i> variants — Makoto Ishitate, Hiroshi Yoshihashi, et al. · Pediatrics International (2025) | TGRS Research Map | TGRS