Linking shox/shox2 deficiency with fgfr3 gain-of-function and natriuretic peptides

levels, which are reduced by CNP treatment. These results in zebrafish may have implications for other vertebrates, including humans with SHOX deficiency, who should be monitored for cardiac disease in later life, and those who have an inadequate response to growth hormone may profit from CNP therapy.

Authors

Sabrina Diebold
Ralph Roeth
Steffen Just (ORCID: https://orcid.org/0000-0001-7396-1281)
Annette Löwen
Gudrun A. Rappold
Sandra Hoffmann
Stefanie Mellein

Institutions

Heidelberg University (DE)
University Hospital Heidelberg (DE)
Institute of Human Genetics (PL)
German Centre for Cardiovascular Research (DE)
University Hospital Ulm (DE)

Publication Details

Journal: Frontiers in Endocrinology
Published: 2026-04-17
DOI: https://doi.org/10.3389/fendo.2026.1803846
Primary Topic: Developmental Biology and Gene Regulation
Type: article
Field-Weighted Citation Impact: 0.00

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article

Linking shox/shox2 deficiency with fgfr3 gain-of-function and natriuretic peptides

Sabrina Diebold, Ralph Roeth, Steffen Just, Annette Löwen et al.

Apr 17, 2026

Frontiers in Endocrinology

Developmental Biology and Gene Regulation

article

Linking shox/shox2 deficiency with fgfr3 gain-of-function and natriuretic peptides

Sabrina Diebold, Ralph Roeth, Steffen Just, Annette Löwen, Gudrun A. Rappold, Sandra Hoffmann, Stefanie Mellein

April 17, 2026article en

Abstract

levels, which are reduced by CNP treatment. These results in zebrafish may have implications for other vertebrates, including humans with SHOX deficiency, who should be monitored for cardiac disease in later life, and those who have an inadequate response to growth hormone may profit from CNP therapy.

Frontiers in EndocrinologyVol. 17

Heidelberg University (DE), University Hospital Heidelberg (DE), Institute of Human Genetics (PL), German Centre for Cardiovascular Research (DE), University Hospital Ulm (DE)

Openalex Percentile: Top 20%

Developmental Biology and Gene Regulation

DOI Open Access PDF OpenAlex

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