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Updated: Jan 7, 2026

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
Published on: May 5, 2018
Congenital Heart Defects and Skeletal Malformations Syndrome (CHDSKM) Associated with the ABL1 Gene in a Peruvian
Daniel Arauco-Lázaro1, Nelson D Purizaca-Rosillo2, Miguel A Rojas-Huillca3
1Facultad de Medicina Humana, Universidad Ricardo Palma, Lima, Perú.
Abstract:
We present the clinical case of a 20-year-old male patient who presented recurrent pneumothorax on 5 occasions; in addition, he revealed a history of skeletal malformations in the hands and joint hypermobility. A genetic panel for connective tissue disorders was performed, in which a heterozygous variant in the gene was detected ABL1: (NM_007313.2): c.199T>C (p.Trp67Arg), which was classified as probably pathogenic, which is why the diagnosis of Heart Defects and Skeletal Malformations Syndrome was confirmed (CHDSKM).
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