Mutation, Missense

Splenomegalia e malattia di Gaucher

Piccioni A, Santoro L, Bruschi B, Lionetti ME, Pugliese F

2025/7 — pag. 187-187 — DOI

A 4-year-old girl, asymptomatic and in good general health, is referred to a paediatric Haemato-Oncology centre for splenomegaly associated with mild anaemia and thrombocytopenia. Initial suspicion of leukaemia is ruled out after thorough clinical, l...

Il neonato con gli occhi socchiusi. La displasia ectodermica legata al gene TP63

Schierz M, Corsello G

2021/4 — pag. 101-104 — DOI

An Italian female newborn presented with cleft palate, erythroderma, desquamations, skin erosions, ankyloblepharon filiforme adnatum, broad nasal root, short philtrum, thin vermillion border, maxillary hypoplasia, microstomia, microglossia, cupped ea...

Stiff-Baby Syndrome: quando pensarci. Il caso di Sofia

P. Assandro, C. Sanesi, C. Trevisol, L. Travan

2013/10

The Stiff-Baby Syndrome is a genetic startle disorder, presenting soon after birth and characterized by an exaggerated persistent startle response to unexpected stimuli and generalized muscular rigidity that decreases during sleep. Hyperekplexia is o...

Piastrinopenia isolata x-linked da mutazione missense del gene WASP: descrizione di un caso

C Locatelli, C Malaventura, R Ciambra, M Pocecco, L. D Notarangelo, L. D Notarangelo

2004/7

PIastrinopenia isolata x-linked da mutazione missense del gene Wasp: descrizione di un caso

C Locatelli, C Malaventura, R Ciambra, M Pocecco, L. D Notarangelo, L. D Notarangelo

2004/7

Piastrinopenia isolata X-linked da mutazione del gene WASP

2004/7 — pag. 450-450

Wiskott-Aldrich (WAS) and X-linked thrombocytopenia (XLT) are two disorders caused by different mutations of the gene WASP. WAS is characterized by recurrent infections, eczema, thrombocytopenia with low mean platet volume (MPV) and increased sus...