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Multiple de novo gene variations in a progeroid phenotype case report: haploinsufficiency mechanisms.
Hernandez-Hernandez, Cristal; Pascual, Jose; Carlo, Simon; Velez-Bartolomei, Frances; Rodriguez, Edwin; Santiago Cornier, Alberto.
Affiliation
  • Hernandez-Hernandez C; School of Medicine, Universidad Central del Caribe, Bayamon, PR, USA.
  • Pascual J; School of Medicine, Ponce Health Sciences University, Ponce, PR, USA.
  • Carlo S; Department of Biochemistry, Ponce Health Sciences University, Ponce, PR, USA.
  • Velez-Bartolomei F; Genetics Section, San Jorge Children's Hospital, San Juan, PR, USA.
  • Rodriguez E; Genetics Section, San Jorge Children's Hospital, San Juan, PR, USA.
  • Santiago Cornier A; Genetics, Stanford University, Stanford, CA, USA.
AME Case Rep ; 5: 40, 2021.
Article in En | MEDLINE | ID: mdl-34805759
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: AME Case Rep Year: 2021 Type: Article Affiliation country: United States
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: AME Case Rep Year: 2021 Type: Article Affiliation country: United States