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Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene
Schilbach–Rott syndrome (SRS, OMIM%164220) is a disorder of unknown aetiology that is characterised by hypotelorism, epichantal folds, cleft palate, dysmorphic face, hypospadia in males and mild mental retardation in some patients. To date, 5 families and 17 patients have exhibited this phenotype, a...
Gorde:
| Argitaratua izan da: | Eur J Hum Genet |
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| Egile Nagusiak: | , , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Springer International Publishing
2019
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6777447/ https://ncbi.nlm.nih.gov/pubmed/30936464 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0385-6 |
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