Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay

Two siblings, one male and one female, ages 6 and 13 yr old, have similar clinical features of global developmental delay, multiple congenital anomalies affecting the cardiac, genitourinary, and skeletal systems, and abnormal eye movements. Whole-genome sequencing revealed a homozygous splice varian...

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Detalles Bibliográficos
Autores principales: Okur, Volkan, LeDuc, Charles A., Guzman, Edwin, Valivullah, Zaheer M., Anyane-Yeboa, Kwame, Chung, Wendy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549555/
https://www.ncbi.nlm.nih.gov/pubmed/31010896
http://dx.doi.org/10.1101/mcs.a004101

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549555/
https://www.ncbi.nlm.nih.gov/pubmed/31010896
http://dx.doi.org/10.1101/mcs.a004101

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