Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad–Sakati syndrome()

OBJECTIVE: Permanent hypoparathyroidism can be presented as part of genetic disorders such as Sanjad–Sakati syndrome (also known as hypoparathyroidism—intellectual disability-dysmorphism), which is a rare autosomal recessive disorder. Our aim was to confirm the diagnosis of a group of patients with...

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Detalles Bibliográficos
Autores principales: Aminzadeh, Majid, Galehdari, Hamid, Shariati, Gholamreza, Malekpour, Nasrin, Ghandil, Pegah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9432144/
https://www.ncbi.nlm.nih.gov/pubmed/30080992
http://dx.doi.org/10.1016/j.jped.2018.07.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9432144/
https://www.ncbi.nlm.nih.gov/pubmed/30080992
http://dx.doi.org/10.1016/j.jped.2018.07.005

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