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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...
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| Foilsithe in: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Springer International Publishing
2019
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| Ábhair: | |
| Rochtain Ar Líne: | 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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