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Article

Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.

European journal of endocrinology - 2 Jul 2024

Díaz-González Francisca, Sentchordi-Montané Lucía, Lucas-Castro Elsa, Modamio-Høybjør Silvia, Heath Karen E

Abstract excerpt

BACKGROUND: Heterozygous Indian Hedgehog gene (IHH) variants are associated with brachydactyly type A1 (BDA1). However, in recent years, numerous variants have been identified in patients with short stature and more variable forms of brachydactyly. Many are located in the C-terminal domain of IHH (IHH-C), which lacks signaling activity but is critical for auto-cleavage and activation of the N-terminal (IHH-N)...

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Identifiers

PMID: 38917024
DOI: 10.1093/ejendo/lvae072

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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