title: A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.
authors.affiliation: Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
authors.forename: Shahida
authors.initials: S
authors.lastname: Moosa
authors.affiliation: Department of Growth and Development, Garrahan Pediatrics Hospital, Buenos Aires, Argentina.
authors.forename: Virginia
authors.initials: V
authors.lastname: Fano
authors.affiliation: Department of Medical Genetics, Garrahan Pediatrics Hospital, Buenos Aires, Argentina.
authors.forename: Maria Gabriela
authors.initials: MG
authors.lastname: Obregon
authors.affiliation: Institute of Human Genetics, University of Cologne, Cologne, Germany.|Cologne Center for Genomics, University of Cologne, Cologne, Germany.
authors.forename: Janine
authors.initials: J
authors.lastname: Altmüller
authors.affiliation: Cologne Center for Genomics, University of Cologne, Cologne, Germany.
authors.forename: Holger
authors.initials: H
authors.lastname: Thiele
authors.affiliation: Cologne Center for Genomics, University of Cologne, Cologne, Germany.|Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Nürnberg
authors.affiliation: Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.affiliation: Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
authors.forename: Bernd
authors.initials: B
authors.lastname: Wollnik
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D002675:Child, Preschool; D018703:Founder Effect; D006130:Growth Disorders / Q000000981:diagnostic imaging / Q000235:genetics; D006547:Hernia / Q000000981:diagnostic imaging / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007223:Infant; D007593:Joint Instability / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D011596:Psychomotor Disorders / Q000000981:diagnostic imaging / Q000235:genetics; D016019:Survival Analysis
chemical_list: D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D024101:Mitochondrial Proteins; C503439:PAM16 protein, human