Výsledky vyhledávání - "Rolf Stottman"

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

Autor: David J. Harris, Teresa Santiago Sim, Heather C Mefford, Chiara De Luca, Cecilia Goueli, Alison M. Muir, Kristin G. Monaghan, Carlos E. Prada, Francesco Brancati, Marie T. McDonald, Dianne Laboy Citron, Rolf Stottman, Marta Biderman Waberski, Abbey A. Scott, Ingrid M. Wentzensen

Publikováno v: Human Genetics and Genomics Advances
HGG Advances, Vol 3, Iss 1, Pp 100072-(2022)

Summary We report seven affected individuals from six families with a recurrent, de novo variant in the ARPC4 gene (c.472C>T [p.Arg158Cys (GenBank: NM_005718.4)]). Core features in affected individuals include microcephaly, mild motor delays, and sig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b288ddeade063558aa825c8a75396e3
http://europepmc.org/articles/PMC8756495

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