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Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature

Lyse Ruaud,Nathalie Roux,Lucile Boutaud,Bettina Bessieres,Faustine Ageorges,Amale Achaiaa,Christine Bole,Patrick Nitschke,Cecile Masson,Michel Vekemans,Alain Verloes,Tania Attie-Bitach

BIRTH DEFECTS RESEARCH（2022）

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Key words
Beaulieu-Boycott-Innes syndrome, prenatal phenotype, THOC6 gene
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