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Article

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.

American journal of medical genetics. Part A - 15 Mar 2006

Courtens Winnie, Wuyts Wim, Poot Martin, Szuhai Karoly, Wauters Jan, Reyniers Edwin, Eleveld Marc, Diaz George, Nöthen Markus M, Parvari Ruti

Abstract excerpt

Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical facial dysmorphism, consisting of prominent forehead, deep-set eyes, and abnormal external ears. This disorder has been mapped to the long arm of chromosome 1 (1q42-q43)...

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Source

Identifiers

PMID: 16470743
DOI: 10.1002/ajmg.a.31122

Genes

TBCE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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