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September 10, 2025Clinical GeneticsOpen Access

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

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Authors

MAMarion Aubert‐MuccaPBPerrine BrunelleMFMartine Doco Fenzy

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Overview

Cohort study reveals insights into miller syndrome phenotypes, highlighting optic atrophy and cardiac defects.

Key Points

  • The study documents a diverse phenotypic spectrum of miller syndrome in a cohort of 10 individuals.
  • Notable findings include a higher incidence of camptodactyly and facial nevus in the affected families.
  • Prenatal diagnosis is emphasized due to common congenital heart defects and limb malformations in this cohort.
  • This work expands the limited understanding of miller syndrome, prompting further assessments of optic atrophy cases.

Cite This Study

Aubert‐Mucca et al. (2025) studied this question.

synapsesocial.com/papers/68c1c22554b1d3bfb60ef489https://doi.org/10.1111/cge.70015
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population2023 · 6 citations
  2. 2Extra phenotypic features in a girl with Miller syndrome2011 · 8 citations
  3. 3Dihydroorotate dehydrogenase depletion hampers mitochondrial function and osteogenic differentiation in osteoblasts2016 · 13 citations