SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients

BACKGROUND: Individuals with pathogenic variants in SATB2 display intellectual disability, speech and behavioral disorders, dental abnormalities and often features of Pierre Robin sequence. SATB2 encodes a transcription factor thought to play a role in bone remodeling. The primary aim of our study w...

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Detalles Bibliográficos
Autores principales: Mouillé, M., Rio, M., Breton, S., Piketty, M. L., Afenjar, A., Amiel, J., Capri, Y., Goldenberg, A., Francannet, C., Michot, C., Mignot, C., Perrin, L., Quelin, C., Van Gils, J., Barcia, G., Pingault, V., Maruani, G., Koumakis, E., Cormier-Daire, V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895909/
https://www.ncbi.nlm.nih.gov/pubmed/35241104
http://dx.doi.org/10.1186/s13023-022-02229-5

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