Novel variants identified in CKAP2L in two siblings with Filippi syndrome

Pathogenic variants in CKAP2L have previously been reported in Filippi syndrome (FS), a rare autosomal recessive, craniodigital syndrome characterized by microcephaly, syndactyly, short stature, intellectual disability, and dysmorphic facial features. To date, fewer than 10 patients with pathogenic...

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Detalles Bibliográficos
Autores principales: Patrick, Ryan J., Weimer, Jill, Davis-Keppen, Laura, Landsverk, Megan L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958909/
https://www.ncbi.nlm.nih.gov/pubmed/34921061
http://dx.doi.org/10.1101/mcs.a006130

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958909/
https://www.ncbi.nlm.nih.gov/pubmed/34921061
http://dx.doi.org/10.1101/mcs.a006130

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