Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.

doi:10.1002/ajmg.a.61432

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Article

Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.

American journal of medical genetics. Part A - 1 Mar 2020

Yamamoto-Shimojima Keiko, Imaizumi Taichi, Akagawa Hiroyuki, Kanno Hitoshi, Yamamoto Toshiyuki

Abstract excerpt

Primrose syndrome is a congenital malformation syndrome characterized by intellectual disability, developmental delay, progressive muscle wasting, and ear lobe calcification. Mutations in the ZBTB20 gene have been established as being accountable for this syndrome. In this study, a novel de novo ZBTB20 mutation, NM_001164342.2:c.1945C>T (p.Leu649Phe), has been identified through whole exome sequencing (WES) in a...

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PMID: 31821719
DOI: 10.1002/ajmg.a.61432

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

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