Article
Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth - Association with a homozygous 2bp-insertion in LTBP2?
European journal of medical genetics - 1 Jun 2021
Vollbach Kristina, Trepels-Kottek Sonja, Elbracht Miriam, Kurth Ingo, Wagner Norbert, Orlikowsky Thorsten, Braunschweig Till, Tenbrock Klaus
Abstract excerpt
We present a male infant with alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and macrosomia/macrocephaly at birth. Whole-exome sequencing revealed a homozygous 2bp-insertion in the latent transforming growth factor-beta binding protein 2 (LTBP2) (c.278_279dup, p.(Ser94Glyfs*187)). So far, LTBP2-variants have been frequently reported with an eye-restricted...
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