Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome

Mowat-Wilson syndrome (MWS) is a rare autosomal dominant syndrome characterized by distinctive facial features, congenital heart defects, Hirschsprung disease, genitourinary anomalies, various structural brain anomalies, and intellectual disability. Pathogenic mutations that result in haploinsuffici...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Mol Syndromol
Asıl Yazarlar: Ayyildiz Emecen, Durdugul, Isik, Esra, Utine, Gulen E., Simsek-Kiper, Pelin O., Atik, Tahir, Ozkinay, Ferda
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: S. Karger AG 2020
Konular:
Original Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7802445/
https://ncbi.nlm.nih.gov/pubmed/33510600
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000511609
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