Associated Papers
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature.
Abdelrazek IM et al.
European Journal of Medical Genetics, 2023
Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes.
Molloy B et al.
Frontiers in Genetics, 2022
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