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Article

Unique skeletal manifestations in patients with Primrose syndrome.

European journal of medical genetics - 1 Aug 2020

Arora Veronica, Leon Eyby, Diaz Jullianne, Hove Hanne Buciek, Carvalho Daniel Rocha, Kurosawa Kenji, Nishimura Naoto, Nishimura Gen, Saxena Renu, Ferreira Carlos, Puri Ratna Dua, Verma Ishwar C

Abstract excerpt

Primrose syndrome (OMIM 259050) is a rare disorder characterised by macrocephaly with developmental delay, a recognisable facial phenotype, altered glucose metabolism, and other features such as sensorineural hearing loss, short stature, and calcification of the ear cartilage. It is caused by heterozygous variants in ZBTB20, a member of the POK family of transcription repressors. Recently, this gene was shown to...

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Identifiers

PMID: 32473227
DOI: 10.1016/j.ejmg.2020.103967
PMCID: PMC9445699

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