Cargando…
A new variant of MYCN gene as a cause of Feingold syndrome
Feingold syndrome 1 (FS1) is a rare disorder that is inherited in autosomal dominant manner with full penetrance but with variable expressivity. The most common phenotypical features described are finger and toe anomalies, microcephaly, short stature, and intestinal atresia. Dysmorphic features, int...
Autores principales: | Zeka, Naim, Bejiqi, Ramush, Gerguri, Abdurrahim, Zogaj, Leonore, Jashari, Haki |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9125397/ https://www.ncbi.nlm.nih.gov/pubmed/35620261 http://dx.doi.org/10.1002/ccr3.5886 |
Ejemplares similares
-
Lafora disease: a case report
por: Zeka, Naim, et al.
Publicado: (2022) -
Compare Of the West Syndrome with Other Syndromes in the Epileptic Encephalopathy - Kosovo Experience
por: Zeka, Naim, et al.
Publicado: (2017) -
Kosovo’s Experience for Children with Feeding Difficulties after Cardiac Surgery for Congenital Heart Defect
por: Bejiqi, Ramush, et al.
Publicado: (2017) -
Klippel – Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature
por: Bejiqi, Ramush, et al.
Publicado: (2015) -
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome
por: Nishio, Yosuke, et al.
Publicado: (2023)