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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...

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Detalles Bibliográficos
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