Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

BACKGROUND: Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagnosed with Seckel syndrome. CASE PRESENTATION: Clinical exome sequencing of the p...

Descripción completa

Detalles Bibliográficos
Autores principales: Marakhonov, Andrey V., Konovalov, Fedor A., Makaov, Amin Kh., Vasilyeva, Tatyana A., Kadyshev, Vitaly V., Galkina, Varvara A., Dadali, Elena L., Kutsev, Sergey I., Zinchenko, Rena A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836840/
https://www.ncbi.nlm.nih.gov/pubmed/29504900
http://dx.doi.org/10.1186/s12920-018-0326-1

Ejemplares similares

Ejemplares similares