Identifying pathogenic variants in the Follistatin‐like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders

BACKGROUND: Follistatin‐like 1 (Fstl1) is a glycoprotein expressed throughout embryonic development. Homozygous loss of Fstl1 in mice results in skeletal and respiratory defects, leading to neonatal death due to a collapse of the trachea. Furthermore, Fstl1 conditional deletion from the endocardial/...

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Publicat a:Mol Genet Genomic Med
Autors principals: Prakash, Stuti, Mattiotti, Andrea, Sylva, Marc, Mulder, Barbara J. M., Postma, Alex V., van den Hoff, Maurice J. B.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6465659/
https://ncbi.nlm.nih.gov/pubmed/30722102
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.567
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