Brain and spine MRI findings in children presenting with TMCO1 mutation

Cerebrofaciothoracic dysplasia (CFTD) is a developmental disorder characterized by distinctive craniofacial dysmorphism, global developmental delay, and skeletal anomalies. CTFD is the result of biallelic autosomal recessive loss of function mutations in the transmembrane and coiled-coil domains one...

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Detalles Bibliográficos
Autores principales: Ratnayake, Charith, Narayanan, Srikala, Gaesser, Jenna, Subramanian, Subramanian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The British Institute of Radiology. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668268/
https://www.ncbi.nlm.nih.gov/pubmed/36451910
http://dx.doi.org/10.1259/bjrcr.20210253

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668268/
https://www.ncbi.nlm.nih.gov/pubmed/36451910
http://dx.doi.org/10.1259/bjrcr.20210253

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