MOWAT–WILSON SYNDROME
Author:
Publisher
Wiley
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/9781119432692.ch38
Reference64 articles.
1. AdamMP ContaJ BeanLJH(2013)Mowat‐Wilson syndrome.GeneReviews[http://www.genetests.org].
2. Clinical features and management issues in Mowat–Wilson syndrome
3. Mowat-Wilson syndrome with craniosynostosis: A case report
4. Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures
5. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing
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1. Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management;Egyptian Journal of Medical Human Genetics;2024-03-27
2. Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome;Molecular Syndromology;2023
3. Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies;Pharmacogenomics and Personalized Medicine;2022-11
4. Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology;International Journal of Molecular Sciences;2022-08-26
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