http://www.cnr.it/ontology/cnr/individuo/prodotto/ID37298
Progressive spastic paraplegia as a feature of tetrasomy 18p (Articolo in rivista)
- Type
- Label
- Progressive spastic paraplegia as a feature of tetrasomy 18p (Articolo in rivista) (literal)
- Anno
- 2010-01-01T00:00:00+01:00 (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
- 10.1002/ajmg.a.33576 (literal)
- Alternative label
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- A. Nucaro; I. Chillotti; T. Pisano; D. Pruna; C. Cianchetti. (literal)
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- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
- Rivista
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
- Note
- ISI Web of Science (WOS) (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
- 1-Istituto di Neurogenetica e Neurofarmacologia CNR- Cittadella Universitaria- Monserrato, Cagliari, Italy.
2- Neuropsichiatria Infantile- Azienda Ospedaliero- Universitaria, Cagliari, Italy. (literal)
- Titolo
- Progressive spastic paraplegia as a feature of tetrasomy 18p (literal)
- Abstract
- We present a case in which we determined that spasticità was due to a progressive spastic paraparesis, with the involvement of cortico-spinal and afferent somatosensory pathway. The clinical picture of this patient fits the basi features of genetic (or hereditary) spastic paraplegia (GPS), which are due to at least 30 different genetic loci, to date none identified in 18p. The propositus was the product of a second pregnancy of unrelated parents. Clinical features during the neonatal period included asymmetric face, hypertelorism, horizontal palpebral fissures, mandibular hypoplasia, low-set ears, hypoplasia of auricles, limited abduction of the hips, right club foot, cryptorchidism and small scrotum. (literal)
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