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Open Accesshttps://doi.org/10.1136/jmg-2022-108602
Copy DOI Journal: Journal of Medical Genetics |  Publication Date: Sep 16, 2022 |
 Citations: 12 |  License type: open-access |
Affiliation: Nagoya City University, Hôpital Necker-Enfants Malades, Université Paris Cité, Inserm, Assistance Publique – Hôpitaux de Paris, University Medical Center Utrecht, University of Bristol, Yokohama City University, Yokohama City University Hospital, Nagoya University, Toyota Memorial Hospital, Aichi Developmental Disability CenterPurposeThe Retriever subunit VPS35L is the third responsible gene for Ritscher-Schinzel syndrome (RSS) after WASHC5 and CCDC22. To date, only one pair of siblings have been reported and their condition...
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