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Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion
Langer–Giedion's syndrome (LGS) or trichorhinophalangeal syndrome type II (TRPS II; MIM:150230) is a contiguous gene deletion syndrome caused by the haploinsufficiency of the TRPS1 and EXT1 genes. Cornelia de Lange's syndrome (CdLS) is a genetically heterogeneous dysmorphic syndrome where...
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| Pubblicato in: | J Pediatr Genet |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Georg Thieme Verlag KG
2020
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| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6976337/ https://ncbi.nlm.nih.gov/pubmed/31976145 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1694779 |
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