Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Mutazioni geniche

3 articoli — 2016-2024

RI Pagine elettroniche
Emergenze neurologiche: caccia all'imitatrice

Corona L, Mazza S, Cualbu A

2024/3 — pag. 189-192 — DOI

The case of a 13-year-old girl presenting with a panic attack following a sudden onset of headache and weakness in the lower right limb is described. Hemiplegic migraine was eventually diagnosed....

EL Caso contributivo
Macrotrombocitopenia, dismorfismi facciali e ritardo dello sviluppo psicomotorio: alla scoperta del gene CDC42

Fabbri E, Giardinelli S, Filippini B, Gasperini P, Mazzocco M, Radice C, Marchetti F, Pericoli R

2022/9 — pag. 181-186 — DOI

Cell Division Control 42 (CDC42) gene encodes for a small GTPase with a fundamental role in controlling intracellular signaling pathway. Gene mutations can cause different phenotypic manifestations, which reflect the variety of the role of this media...

RI Problemi speciali
La sindrome di Cornelia de Lange

V. Decimi, A. Cereda, M. Mariani, L. Bettini, A. Selicorni

2016/6 — pag. 373-380

Which are the distinctive features of Cornelia de Lange syndrome? When should it be suspected? Which of these features are of interest for a paediatrician who assists a young patient with this syndrome? Which tools can the paediatrician use in orde...

Argomenti correlati
Gene mutations (3) Developmental delay (2) Intellectual Disability (2) Mutation (2) Congenital abnormalities (1) Family history (1) Migraine with Aura (1) Ritardo dello sviluppo psicomotorio (1) Assistenza pediatrica (1) Distinctive Features (1) Heart Defects, Congenital (1) Panic Disorder (1) Child (1) Facial dysmorphisms (1) Malformazioni congenite (1) Reflusso gastroesofageo (1) acute cerebral event (1) Diagnosis, Differential (1) Growth Disorders (1) NIPBL Gene Mutation (1)