A Novel NOTCH3 Variant Leading to Lateral Meningocele Syndrome: Prenatal Diagnosis and Possible Expansion of the Phenotype
The occurrence of biliary anomalies has not been previously reported in LMS but may have biological plausibility. Expression of <i>NOTCH3</i> has been demonstrated in biliary development and is thought to play a role in the differentiation of hepatoblasts into biliary epithelial cells, and also in liver regeneration and repair. We hypothesize that the findings reported here might expand the phenotype of LMS.
Authors
- Débora Romeo Bertola (ORCID: https://orcid.org/0000-0002-4701-6777)
- Rachel Sayuri Honjo (ORCID: https://orcid.org/0000-0002-9223-7341)
- Mário Henrique Burlacchini de Carvalho (ORCID: https://orcid.org/0000-0003-0599-0739)
- Rossana Pulcineli Vieira Francisco (ORCID: https://orcid.org/0000-0002-9981-8069)
- Amy Frey (ORCID: https://orcid.org/0000-0001-5914-4584)
- Mariana Azevedo Carvalho (ORCID: https://orcid.org/0000-0001-7193-4917)
- Leandro Tavares Lucato (ORCID: https://orcid.org/0000-0001-9181-5245)
- Suely Fazio Ferraciolli (ORCID: https://orcid.org/0000-0001-5687-4186)
- Isabela Dorneles Pasa
- Chong Ae Kim (ORCID: https://orcid.org/0000-0002-1754-1300)
- Mario Vitor Caldeira Pagotto
Institutions
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-11-07
- DOI
- https://doi.org/10.1159/000542432
- Citations
- 1
- Primary Topic
- Craniofacial Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.55