A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report

BACKGROUND: Chromosomal region 7q21.3 comprises approximately 5.2 mega base pairs that include genes DLX5/6, SHFM1, and DYNC1I1 associated with split hand/split foot malformation 1. So far, there are reports of eight families with deletion of DYNC1I1 and preserved DLX5/6 associated with ectrodactyly...

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Detalles Bibliográficos
Autores principales: Ramos-Zaldívar, Héctor M., Martínez-Irías, Daniel G., Espinoza-Moreno, Nelson A., Napky-Rajo, José S., Bueso-Aguilar, Tulio A., Reyes-Perdomo, Karla G., Montes-Gambarelli, Jimena A., Euceda, Isis M., Ponce-Barahona, Aldo F., Gámez-Fernández, Carlos A., Moncada-Arita, Wilberg A., Palomo-Bermúdez, Victoria A., Jiménez-Faraj, Julia E., Hernández-Padilla, Amanda G., Olivera, Denys A., Robertson, Kevin J., Leiva-Sanchez, Luis A., Herrera-Paz, Edwin Francisco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4904365/
https://www.ncbi.nlm.nih.gov/pubmed/27291887
http://dx.doi.org/10.1186/s13256-016-0921-8

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