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

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

Abstract 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 ar...

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Bibliographic Details
Main Authors: Emiy Yokoyama, Dennise Lesley Smith-Pellegrin, Silvia Sánchez, Bertha Molina, Alfredo Rodríguez, Rocío Juárez, Esther Lieberman, Silvia Avila, José Luis Castrillo, Victoria del Castillo, Sara Frías
Format: Article
Language:English
Published: BMC 2017-11-01
Series:Molecular Cytogenetics
Subjects:
Hand-foot-genital syndrome
HOXA13
7p15 deletion
Online Access:http://link.springer.com/article/10.1186/s13039-017-0345-1

Internet

http://link.springer.com/article/10.1186/s13039-017-0345-1

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