FIGURE
Fig. 1
- ID
- ZDB-FIG-260528-7
- Publication
- Ghosh et al., 2025 - EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects
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Fig. 1
Pedigree and photographs of the patients. (A) Schematic representation of EARP-interacting protein 1 (EIPR1), endosome-associated recycling protein (EARP), golgi-associated retrograde protein (GARP) and the GTPases RAB4A and ARL5. (B) Photographs of Patient FI:1 at 16 years of age showing facial dysmorphism, microcephaly and bilateral club feet. Photographs of other patients were not informative or not available and are therefore not shown. (C) Family pedigrees. Affected individuals are depicted in grey. |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
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