De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

We report truncating de novo variants in specific exons of FBRSL1 in three unrelated children with an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. The function of FBRSL1 is largely unkn...

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Detalles Bibliográficos
Autores principales: Ufartes, Roser, Berger, Hanna, Till, Katharina, Salinas, Gabriela, Sturm, Marc, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Funke, Rudolf, Apeshiotis, Neophytos, Langen, Hendrik, Wollnik, Bernd, Borchers, Annette, Pauli, Silke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519918/
https://www.ncbi.nlm.nih.gov/pubmed/32424618
http://dx.doi.org/10.1007/s00439-020-02175-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519918/
https://www.ncbi.nlm.nih.gov/pubmed/32424618
http://dx.doi.org/10.1007/s00439-020-02175-x

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