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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Vydáno v:Eur J Hum Genet
Hlavní autoři: Prontera, Paolo, Rogaia, Daniela, Sallicandro, Ester, Mencarelli, Amedea, Imperatore, Valentina, Squeo, Gabriella Maria, Merla, Giuseppe, Elisei, Sandro, Moretti-Ferreira, Danilo, Esposito, Susanna, Stangoni, Gabriela
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer International Publishing 2019
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Article
On-line přístup: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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