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Titel:

Investigating the role of ASCC1 in the causation of bone fragility.

Dokumenttyp:
Article; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Voraberger, Barbara; Mayr, Johannes A; Fratzl-Zelman, Nadja; Blouin, Stéphane; Uday, Suma; Kopajtich, Robert; Koedam, Marijke; Hödlmayr, Helena; Wortmann, Saskia B; Csillag, Bernhard; Prokisch, Holger; van der Eerden, Bram C J; El-Gazzar, Ahmed; Högler, Wolfgang
Abstract:
Bi-allelic variants in ASCC1 cause the ultrarare bone fragility disorder "spinal muscular atrophy with congenital bone fractures-2" (SMABF2). However, the mechanism by which ASCC1 dysfunction leads to this musculoskeletal condition and the nature of the associated bone defect are poorly understood. By exome sequencing, we identified a novel homozygous deletion in ASCC1 in a female infant. She was born with severe muscular hypotonia, inability to breathe and swallow, and virtual absence of sponta...     »
Zeitschriftentitel:
Front Endocrinol (Lausanne)
Jahr:
2023
Band / Volume:
14
Volltext / DOI:
doi:10.3389/fendo.2023.1137573
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/37455927
Print-ISSN:
1664-2392
TUM Einrichtung:
Institut für Humangenetik (Prof. Winkelmann)
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