Cargando…
Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome – Literature Review
Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome, with diaphragmatic defects and secondary lung hypoplasia as cardinal features. Despite it was reported first in 1979, its exact etiology has not been established to date. With this review, we would like to draw attention...
Autores principales: | Kosinski, Przemyslaw, Greczan, Milena, Jezela-Stanek, Aleksandra |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8215573/ https://www.ncbi.nlm.nih.gov/pubmed/34163527 http://dx.doi.org/10.3389/fgene.2021.674722 |
Ejemplares similares
-
Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review
por: Paprocka, Justyna, et al.
Publicado: (2022) -
Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis
por: Greczan, Milena, et al.
Publicado: (2022) -
Nonimmune Hydrops Fetalis—Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review
por: Kosinski, Przemyslaw, et al.
Publicado: (2020) -
Editorial: Inherited Protein Glycosylation Defects in Humans
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2022) -
Biosynthesis and deficiencies of glycosylphosphatidylinositol
por: KINOSHITA, Taroh
Publicado: (2014)