CUGC for Simpson-Golabi-Behmel syndrome (SGBS)

NAME OF THE DISEASE (SYNONYMS): Simpson-Golabi-Behmel syndrome (SGBS). OMIM# OF THE DISEASE: 312870. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS: GPC3. OMIM# OF THE GENE(S): 300037. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for m...

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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Vuillaume, Marie-Laure, Moizard, Marie-Pierre, Baumer, Alessandra, Cottereau, Edouard, Brioude, Frédéric, Rauch, Anita, Toutain, Annick
Format: Artigo
Sprog:Inglês
Udgivet: Springer International Publishing 2019
Fag:
Clinical Utility Gene Card
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6460641/
https://ncbi.nlm.nih.gov/pubmed/30683921
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0339-z
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