2 documents found, page 1 of 1
Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes
Mazzeu,Juliana F.; Krepischi-Santos,Ana Cristina; Rosenberg,Carla; Lourenço,Charles M.; Lezirovitz,Karina; Szuhai,Karoly; Martelli,Lúcia R.Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS) and Wolf-Hirschhorn syndrome (WHS), the former being considered a milder phenotype of the latter. We describe a patient with partial deletion of chromosome 4 and partial duplication of chromosome 8 documented...
Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one ...
Pardono,Eliete; Mazzeu,Juliana F.; Lezirovitz,Karina; Auricchio,Maria Teresa B.M.; Iughetti,Paula; Nascimento,Rafaella M.P.; Mingroni-Netto,Regina C.We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present both in the affected individual and in his clinically normal father. The mutation found in the second family consisted of a deletion of 13 bases, c.764-776del(TTACC...