Natural history of Myhre syndrome

BACKGROUND: Myhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial features and joint limitation, caused by a gain of function mutation in SMAD4 gene. The natural history of MS remains incompletely understood. METHODS: We recruited in a longitudinal retrospective s...

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Detalles Bibliográficos
Autores principales: Yang, David Dawei, Rio, Marlene, Michot, Caroline, Boddaert, Nathalie, Yacoub, Wael, Garcelon, Nicolas, Thierry, Briac, Bonnet, Damien, Rondeau, Sophie, Herve, Dominique, Guey, Stephanie, Angoulvant, Francois, Cormier-Daire, Valerie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9338657/
https://www.ncbi.nlm.nih.gov/pubmed/35907855
http://dx.doi.org/10.1186/s13023-022-02447-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9338657/
https://www.ncbi.nlm.nih.gov/pubmed/35907855
http://dx.doi.org/10.1186/s13023-022-02447-x

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