A de novo SFMBT1 pathogenic variant identified in a boy with Poland syndrome

Poland syndrome is a rare developmental disorder characterized by unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, accompanied with ipsilateral hand malformations. To date, no clear genetic cause has been associated with Poland syndrome, although familial ca...

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Detalles Bibliográficos
Autores principales: Miltiadous, Andri, Demetriou, Philippos, Kyriakou, Maria, Gerasimou, Petroula, Herodotou, George, Elpidoforou, Agathi, Kyprianou, Yiannos, Iacovou, Maria, Chi, Jianxiang, Costeas, Paul, Tanteles, George A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9059785/
https://www.ncbi.nlm.nih.gov/pubmed/35483874
http://dx.doi.org/10.1101/mcs.a006168

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9059785/
https://www.ncbi.nlm.nih.gov/pubmed/35483874
http://dx.doi.org/10.1101/mcs.a006168

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