Search Results - "Grosch, Sarah"

A further case of AFG2B‐related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro) by Grosch, Sarah, Kehrer, Martin, Riess, Olaf, Bevot, Andrea, Haack, Tobias B.

“…Background Bi‐allelic variants in AFG2B (previously known as SPATA5L1) have recently been associated with a neurodevelopmental disorder with hearing loss and…”
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Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome by Marbach, Felix, Lipska‐Ziętkiewicz, Beata S., Knurowska, Agata, Michaud, Vincent, Margot, Henri, Lespinasse, James, Tran Mau Them, Frédéric, Coubes, Christine, Park, Joohyun, Grosch, Sarah, Roggia, Cristiana, Grasshoff, Ute, Kalsner, Louisa, Denommé‐Pichon, Anne‐Sophie, Afenjar, Alexandra, Héron, Bénédicte, Keren, Boris, Caro, Pilar, Schaaf, Christian P.

“…We present the phenotypes of seven previously unreported patients with Marbach–Schaaf neurodevelopmental syndrome, all carrying the same recurrent heterozygous…”
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