7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype

BACKGROUND: Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of function of the HOXA13 gene, which is located on 7p15; however, there are some p...

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Detalles Bibliográficos
Autores principales: Yokoyama, Emiy, Smith-Pellegrin, Dennise Lesley, Sánchez, Silvia, Molina, Bertha, Rodríguez, Alfredo, Juárez, Rocío, Lieberman, Esther, Avila, Silvia, Castrillo, José Luis, del Castillo, Victoria, Frías, Sara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5688765/
https://www.ncbi.nlm.nih.gov/pubmed/29177010
http://dx.doi.org/10.1186/s13039-017-0345-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5688765/
https://www.ncbi.nlm.nih.gov/pubmed/29177010
http://dx.doi.org/10.1186/s13039-017-0345-1

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