Open AccessMultiple de novo gene variations in a progeroid phenotype case report: haploinsufficiency mechanisms
Author(s) -
Cristal Hernandez-Hernandez,
J.Gasco Pascual,
Simón Carlo,
Frances VelezBartolomei,
Edwin Rodriguez,
Alberto S. Cornier
Publication year - 2021
Publication title -
ame case reports
Language(s) - Uncategorized
Resource type - Journals
ISSN - 2523-1995
DOI - 10.21037/acr-21-25
Subject(s) - microcephaly , medicine , haploinsufficiency , anatomy , arthrogryposis , genetics , pathology , phenotype , biology , pediatrics , gene