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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Cold Spring Harb Mol Case Stud |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Cold Spring Harbor Laboratory Press
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6549555/ https://ncbi.nlm.nih.gov/pubmed/31010896 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004101 |
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