Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

Amytice Mirchi; Simon‐Pierre Guay; Luan T. Tran; Nicole I. Wolf; Adeline Vanderver; Bernard Brais; Michel Sylvain; Daniela Pohl; Elsa Rossignol; Michael Saito; Sébastien Moutton; Luis González‐Gutiérrez‐Solana; Isabelle Thiffault; Michael C. Kruer; Dolores Gonzales Moron; Marcelo Kauffman; Cyril Goizet; László Sztriha; Emma Glamuzina; Serge B. Melançon; Sakkubai Naidu; Jean‐Marc Retrouvey; Suzanne Lacombe; Beatriz Bernardino-Cuesta; Isabelle De Bie; Geneviève Bernard

doi:10.1136/jmg-2023-109223

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Abstract

BACKGROUND: are described. METHODS: The craniofacial features of 31 patients with POLR3-HLD were evaluated, and potential genotype-phenotype associations were evaluated. RESULTS: biallelic variants demonstrated bitemporal narrowing. CONCLUSION: .

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Mirchi et al. (2023) studied this question.

synapsesocial.com/papers/6a07ece209b3c820153786c7 https://doi.org/10.1136/jmg-2023-109223

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Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

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Abstract

Discussion

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Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

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Abstract

Discussion

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