Maternal mosaicism for a missense variant in the SMS gene that causes Snyder–Robinson syndrome

There is increasing recognition for the contribution of genetic mosaicism to human disease, particularly as high-throughput sequencing has enabled detection of sequence variants at very low allele frequencies. Here, we describe an infant male who presented at 9 mo of age with hypotonia, dysmorphic f...

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Detalles Bibliográficos
Autores principales: Marhabaie, Mohammad, Hickey, Scott E., Miller, Katherine, Grischow, Olivia, Schieffer, Kathleen M., Franklin, Samuel J., Gordon, David M., Choi, Samantha, Mihalic Mosher, Theresa, White, Peter, Koboldt, Daniel C., Wilson, Richard K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751409/
https://www.ncbi.nlm.nih.gov/pubmed/34667072
http://dx.doi.org/10.1101/mcs.a006122

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751409/
https://www.ncbi.nlm.nih.gov/pubmed/34667072
http://dx.doi.org/10.1101/mcs.a006122

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