X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

BACKGROUND: SHROOM4 is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in SHROOM4 have been associated with the neurodevelopmental disorder Stocco dos Santos syn...

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Detalles Bibliográficos
Autores principales: Kolvenbach, Caroline M, Felger, Tim, Schierbaum, Luca, Thiffault, Isabelle, Pastinen, Tomi, Szczepańska, Maria, Zaniew, Marcin, Adamczyk, Piotr, Bayat, Allan, Yilmaz, Öznur, Lindenberg, Tobias T, Thiele, Holger, Hildebrandt, Friedhelm, Hinderhofer, Katrin, Moog, Ute, Hilger, Alina C, Sullivan, Bonnie, Bartik, Lauren, Gnyś, Piotr, Grote, Phillip, Odermatt, Benjamin, Reutter, Heiko M, Dworschak, Gabriel C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Developmental Defects
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10262053/
https://www.ncbi.nlm.nih.gov/pubmed/36379543
http://dx.doi.org/10.1136/jmg-2022-108738

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10262053/
https://www.ncbi.nlm.nih.gov/pubmed/36379543
http://dx.doi.org/10.1136/jmg-2022-108738

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