POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

doi:10.1111/cge.14353

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Article

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.

Clinical genetics - 1 Aug 2023

Rossi Alessandra, Blok Lot Snijders, Neuser Sonja, Klöckner Chiara, Platzer Konrad, Faivre Laurence Olivier, Weigand Heike, Dentici Maria L, Tartaglia Marco, Niceta Marcello, Alfieri Paolo, Srivastava Siddharth, Coulter David, Smith Lacey, Vinorum Kristin, Cappuccio Gerarda, Brunetti-Pierri Nicola, Torun Deniz, Arslan Mutluay, Lauridsen Mathilde F, Murch Oliver, Irving Rachel, Lynch Sally A, Mehta Sarju G, Carmichael Jenny, Zonneveld-Huijssoon Evelien, de Vries Bert, Kleefstra Tjitske, Johannesen Katrine M, Westphall Ian T, Hughes Susan S, Smithson Sarah, Evans Julie, Dudding-Byth Tracy, Simon Marleen, van Binsbergen Ellen, Herkert Johanna C, Beunders Gea, Oppermann Henry, Bakal Mert, Møller Rikke S, Rubboli Guido, Bayat Allan

Abstract excerpt

POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and genotype-phenotype correlations in individuals with POU3F3-related disorders. We recruited unpublished individuals with POU3F3 variants through international collaborations and obtained updated clinical data on previously published individuals. Trio exome...

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PMID: 37165752
DOI: 10.1111/cge.14353
PMCID: PMC10330344

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Source receipt: pubmed, retrieved 7 Sept 2026.

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