Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case

Authors: Mateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova, Christine Bartsch, Barbara Fritz, Cordula Knopp, Björn Beckers, Frank Dohle, Matthias Meyer-Wittkopf, Roland Axt-Fliedner, Alexander V. Beribisky, Manuel Hofer, Franco Laccone, Katharina Schoner

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

Subject Terms: Tracheal agenesis, Tracheal atresia, Congenital high airway obstruction sequence (CHAOS), VACTERL association, Sirenomelia, MAPK11 variant, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/a27bc7de37c240fbb01c3dfa427cba1f

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations

Authors: Helga Rehder, Susanne G. Kircher, Katharina Schoner, Mateja Smogavec, Jana Behunova, Ulrike Ihm, Margit Plassmann, Manuel Hofer, Helmut Ringl, Franco Laccone

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)

Subject Terms: Diprosopus, Janiceps, Parasitic twin, CNS malformations, Holoprosencephaly, Cerebral di-symmetry, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/15ffbb36b22a48a6baa3400af8cb7237

Lethal osteogenesis imperfecta type XX caused by compound heterozygous frameshift mutations in MESD

Authors: Julian Stürznickel, Katharina Jaehn-Rickert, Jozef Zustin, Maximilian M. Delsmann, Helga Rehder, Anna Floriane Hennig, Katharina Schoner, Alfons Kreczy, Thorsten Schinke, Michael Amling, Uwe Kornak

Source: Bone Reports, Vol 14, Iss , Pp 100851- (2021)

Subject Terms: Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352187221001066; https://doaj.org/toc/2352-1872

Access URL: https://doaj.org/article/eede8a96c3dc417e863cc937ab14a3cc