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Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome
Hypotonia–cystinuria syndrome (HCS) and 2p21 deletion syndrome are two recessive contiguous gene deletion syndromes associated with cystinuria type I. In HCS patients, only SLC3A1 and PREPL are disrupted. In the 2p21 deletion syndrome, two additional genes (C2orf34 and PPM1B) are lost. Molecular ana...
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Publishing Group
2009
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3027732/ https://ncbi.nlm.nih.gov/pubmed/21686663 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.08.2008.0719 |
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