טוען...
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
ABSTRACT: Molecular diagnostic testing of the 11p15.5-associated imprinting disorders Silver-Russell and Beckwith-Wiedemann syndrome (SRS, BWS) is challenging due to the broad spectrum of molecular defects and their mosaic occurrence. Additionally, the decision on the molecular testing algorithm is...
שמור ב:
| הוצא לאור ב: | J Mol Med (Berl) |
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| Main Authors: | , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Springer Berlin Heidelberg
2020
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7524824/ https://ncbi.nlm.nih.gov/pubmed/32839827 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00109-020-01966-z |
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