Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

Skeletal dysplasias comprise a large spectrum of mostly monogenic disorders affecting bone growth, patterning, and homeostasis, and ranging in severity from lethal to mild phenotypes. This study aimed to underpin the genetic cause of skeletal dysplasia in three unrelated families with variable skele...

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Detalles Bibliográficos
Autores principales: Reilly, Madeline Louise, Ain, Noor ul, Muurinen, Mari, Tata, Alice, Huber, Céline, Simon, Marleen, Ishaq, Tayyaba, Shaw, Nick, Rusanen, Salla, Pekkinen, Minna, Högler, Wolfgang, Knapen, Maarten F. C. M., van den Born, Myrthe, Saunier, Sophie, Naz, Sadaf, Cormier‐Daire, Valérie, Benmerah, Alexandre, Makitie, Outi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545074/
https://www.ncbi.nlm.nih.gov/pubmed/35748595
http://dx.doi.org/10.1002/jbmr.4639

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