Article

The congenital multiple organ malformation syndrome, Ritscher-Schinzel syndrome is an endosomal recyclinopathy

2024-08-19

Abstract excerpt

Ritscher-Schinzel syndrome (RSS) is a congenital malformation syndrome characterized by cerebellar, cardiac, and craniofacial malformations and phenotypes associated with liver, skeletal and kidney dysfunction. The genetic cause of RSS remains to be fully defined, and limited information is available regarding the root cause of the multiple tissue phenotypes. Here, we combine genetic and clinical analysis in patie...

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Literature Corpus work: d262f029-f689-5476-b826-53aa4023afa1
DOI: 10.1101/2024.08.17.24311658

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