Article
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.
Clinical genetics - 1 Jan 2026
Aubert Mucca Marion, Brunelle Perrine, Doco Fenzy Martine, Vanlerberghe Clémence, Dieux Anne, Feyereisen Laura, Jobic Florence, Lode Laurence, Le Guyader Gwenael, Petit Florence, Schaefer Elise, Zaafrane-Khachnaoui Khaoula, Ziegler Alban, Patat Olivier
Abstract excerpt
Miller syndrome (MIM#263750) is a rare autosomal recessive acrofacial dysostosis associated with biallelic DHODH variants. Since the identification of the gene in 2010, five case reports have described a variable phenotype in only nine individuals from eight families. We present a cohort of 10 individuals from seven families affected by Miller syndrome, spanning the prenatal stage to 46 years of age. We report on...
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