Joana Pereira-Nunes Ana Vilan Ana Grangeia Renata d'Oliveira
10.1177/23247096221150637
J Investig Med High Impact Case Rep
2023 Jan-Dec;11:23247096221150637.
next generation sequencing pierpont syndrome arthrogryposis multiplex congenita exome sequencing
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/36691917/
Abnormalities, Multiple / genetics Arthrogryposis / diagnosis Arthrogryposis / genetics
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
PMC9880567
36691917
Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome
2023