Isabelle Schrauwen Szabolcs Szelinger Ashley L Siniard Ahmet Kurdoglu Jason J Corneveaux Ivana Malenica Ryan Richholt Guy Van Camp Matt De Both Shanker Swaminathan Mari Turk Keri Ramsey David W Craig Vinodh Narayanan Matthew J Huentelman
10.1371/journal.pone.0131797
PLoS One
2015 Jul 15;10(7):e0131797.
CC BY
https://pubmed.ncbi.nlm.nih.gov/26176221/
Caveolin 1 / genetics Fetal Growth Retardation / genetics Lipodystrophy, Congenital Generalized / genetics Progeria / genetics
Caveolin 1 / genetics Fetal Growth Retardation / genetics Lipodystrophy, Congenital Generalized / genetics Progeria / genetics Case Reports Research Support, Non-U.S. Gov't Acyltransferases / genetics Child, Preschool Codon, Nonsense Female Fetal Growth Retardation / pathology Frameshift Mutation High-Throughput Nucleotide Sequencing Humans Lipodystrophy, Congenital Generalized / pathology Phenotype Phosphatidate Phosphatase / genetics Progeria / pathology Sequence Analysis, RNA Severity of Illness Index Caveolin 1 Codon, Nonsense Acyltransferases 2-acylglycerophosphate acyltransferase LPIN1 protein, human Phosphatidate Phosphatase Lipodystrophy, Congenital Generalized, Type 3 Progeroid syndrome, neonatal
PMC4503302
26176221
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome
2015