article_metadata: Joana Pereira-Nunes Ana Vilan Ana Grangeia Renata d'Oliveira
article_metadata: 10.1177/23247096221150637
article_metadata: J Investig Med High Impact Case Rep
article_metadata: 2023 Jan-Dec;11:23247096221150637.
article_metadata: next generation sequencing pierpont syndrome arthrogryposis multiplex congenita exome sequencing
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36691917/
article_metadata: Abnormalities, Multiple / genetics Arthrogryposis / diagnosis Arthrogryposis / genetics
article_metadata: Abnormalities, Multiple / genetics Arthrogryposis / diagnosis Arthrogryposis / genetics Case Reports Comparative Genomic Hybridization Genetic Testing Humans Infant, Newborn Male Phenotype TBL1XR1 protein, human Plantar Lipomatosis, Unusual Facies, and Developmental Delay
article_metadata: PMC9880567
article_metadata: 36691917
article_metadata: Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome
article_metadata: 2023