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Article

A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review.

American journal of medical genetics. Part A - 1 Aug 2018

Ryabets-Lienhard Anna, Issaranggoon Na Ayuthaya Satja, Graham John M, Pitukcheewanont Pisit

Abstract excerpt

Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) is a rare autosomal recessive disorder attributed to the mutations in the tubulin-specific chaperone E (TBCE) gene, which is vital for microtubule function during mitosis, organelle positioning, and neuronal cytokinesis. HRD is a congenital syndromic hypoparathyroidism associated with growth deficiency, microcephaly, intellectual disability, ocular...

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Identifiers

PMID: 30055029
DOI: 10.1002/ajmg.a.38851

Genes

TBCE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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