Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T > C:p.F417S) and unusual spinal anomaly

Gustavo Savino, Livia Garavelli, Graziella Simonte, Simonetta Rosato, Anita Wischmeijer, Enrico Albertini, Elisa Guareschi, Caterina Longo, Giuseppe Albertini, Chiara Gelmini, Chiara Greco, Stefania Errico, Marco Pavanello, Rudolf Happle, Sheila Unger, Andrea Superti-Furga, Karl-Heinz Grzeschik

Risultato della ricerca: Contributo in rivistaArticolo in rivista

3 Citazioni (Scopus)

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Medicine & Life Sciences