Associated Papers
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Mensah MA et al.
Nature, 2023
Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men.
Brachet C et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Chassaing N et al.
Clinical Genetics, 2014
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