Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton–Brown–Rahman syndrome and Say–Barber –Biesecker–Young–Simpson variant of ohdo syndrome

Tatton–Brown–Rahman syndrome (TBRS) and Say–Barber–Biesecker– Young–Simpson variant of Ohdo syndrome (SBBYSS) are extremely rare genetic disorders with less than 100 reported cases. Patients with these disorders exhibit a characteristic facial dysmorphism: TBRS is characterized by a round face, a st...

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Detalles Bibliográficos
Autores principales: Park, Sunha, Kim, Jaewon, Song, Tae-Young, Jang, Dae-Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9382078/
https://www.ncbi.nlm.nih.gov/pubmed/35991575
http://dx.doi.org/10.3389/fgene.2022.903199

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9382078/
https://www.ncbi.nlm.nih.gov/pubmed/35991575
http://dx.doi.org/10.3389/fgene.2022.903199

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