Primrose syndrome: Characterization of the phenotype in 42 patients.

doi:10.1111/cge.13749

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Article

Primrose syndrome: Characterization of the phenotype in 42 patients.

Clinical genetics - 1 Jun 2020

Melis Daniela, Carvalho Daniel, Barbaro-Dieber Tina, Espay Alberto J, Gambello Michael J, Gener Blanca, Gerkes Erica, Hitzert Marrit M, Hove Hanne B, Jansen Sandra, Jira Petr E, Lachlan Katherine, Menke Leonie A, Narayanan Vinodh, Ortiz Damara, Overwater Eline, Posmyk Renata, Ramsey Keri, Rossi Alessandro, Sandoval Renata Lazari, Stumpel Constance, Stuurman Kyra E, Cordeddu Viviana, Turnpenny Peter, Strisciuglio Pietro, Tartaglia Marco, Unger Sheela, Waters Todd, Turnbull Clare, Hennekam Raoul C

Abstract excerpt

Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting. The syndrome is caused by de novo heterozygous missense variants in ZBTB20. Most of the 29 published patients are adults as characteristics appear more...

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PMID: 32266967
DOI: 10.1111/cge.13749
PMCID: PMC7384157

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