Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine

BACKGROUND: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal disorder first described in 2018. This syndrome starts with pre- and postnatal developmental delay, and gradually presents with variable facial dysmorphisms, a short sta...

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Detalles Bibliográficos
Autores principales: Zhang, Wenyan, Yao, Ziming, Guo, Ruolan, Cao, Jun, Li, Wei, Hao, Chanjuan, Zhang, Xuejun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10691085/
https://www.ncbi.nlm.nih.gov/pubmed/38037133
http://dx.doi.org/10.1186/s13023-023-02975-0

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