Associated Papers
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.
Ghosh S et al.
Brain : a Journal of Neurology, 2025
41058046 (PubMed )
Supplement: awaf371_supplementary_data.zip › brain-2024-02167-File010.pdf
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.
Szczecinska W et al.
The British Journal of Dermatology, 2014
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