Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature

BACKGROUND: Cerebro-facio-thoracic dysplasia (CFTD) is a rare, autosomal recessive disorder characterized by facial dysmorphism, cognitive impairment and distinct skeletal anomalies and has been linked to the TMCO1 defect syndrome. OBJECTIVE: To describe two siblings with features consistent with CF...

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Detalles Bibliográficos
Autores principales: Tender, Jennifer A.F., Ferreira, Carlos R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2018
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904567/
https://www.ncbi.nlm.nih.gov/pubmed/29682451
http://dx.doi.org/10.3233/TRD-180022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904567/
https://www.ncbi.nlm.nih.gov/pubmed/29682451
http://dx.doi.org/10.3233/TRD-180022

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