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Page 1
Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes.
Am J Med Genet A. 2013 Oct;161A(10):2656-62. doi: 10.1002/ajmg.a.36146. Epub 2013 Aug 16.
Am J Med Genet A. 2013.
PMID: 24038848
Review.
Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?
Ferrero GB, Valenzise M, Franco B, Defilippi C, Gregato G, Corsello G, Pepe E, Silengo M.
Ferrero GB, et al. Among authors: pepe e.
Am J Med Genet. 2002 Dec 1;113(3):291-4. doi: 10.1002/ajmg.10815.
Am J Med Genet. 2002.
PMID: 12439899
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A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
Ferrero GB, Baldassarre G, Panza E, Valenzise M, Pippucci T, Mussa A, Pepe E, Seri M, Silengo MC.
Ferrero GB, et al. Among authors: pepe e.
Eur J Pediatr. 2010 Feb;169(2):223-8. doi: 10.1007/s00431-009-1011-3. Epub 2009 Jun 18.
Eur J Pediatr. 2010.
PMID: 19536562
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Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome.
Mussa A, Ferrero GB, Ceoloni B, Basso E, Chiesa N, De Crescenzo A, Pepe E, Silengo M, de Sanctis L.
Mussa A, et al. Among authors: pepe e.
Eur J Pediatr. 2011 Nov;170(11):1407-11. doi: 10.1007/s00431-011-1455-0. Epub 2011 Mar 30.
Eur J Pediatr. 2011.
PMID: 21448630
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Nickel Gluconate-Mercurius Heel-Potentised Swine Organ Preparations: a new therapeutical approach for the primary treatment of pediatric ranula and intraoral mucocele.
Garofalo S, Briganti V, Cavallaro S, Pepe E, Prete M, Suteu L, Tavormina P.
Garofalo S, et al. Among authors: pepe e.
Int J Pediatr Otorhinolaryngol. 2007 Feb;71(2):247-55. doi: 10.1016/j.ijporl.2006.10.013. Epub 2006 Nov 20.
Int J Pediatr Otorhinolaryngol. 2007.
PMID: 17116334
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Bilateral macrostomia associated with aqueductal stenosis and glial heterotopias.
Pepe E, Petricig P, Peretta P, Cinalli G.
Pepe E, et al.
Cleft Palate Craniofac J. 2007 Sep;44(5):558-61. doi: 10.1597/06-096.1.
Cleft Palate Craniofac J. 2007.
PMID: 17760484
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