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Article

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

American journal of medical genetics. Part A - 1 Jun 2016

Mattioli Francesca, Piton Amelie, Gérard Bénédicte, Superti-Furga Andrea, Mandel Jean-Louis, Unger Sheila

Abstract excerpt

The cardinal features of Primrose syndrome (MIM 259050) are dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified pinnae. A variety of neurological signs and symptoms have been reported including hearing loss, autism, behavioral abormalities, hypotonia, cerebral calcifications, and hypoplasia of the corpus callosum. Recently,...

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Source

Identifiers

PMID: 27061120
DOI: 10.1002/ajmg.a.37645

Genes

ZBTB20

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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Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.PMID 27061120Read ↗

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