Genes, X-Linked

Ematuria e non solo... a volte è questione di famiglia: la sindrome di Alport

Sarno E, Alberici I, La Scola C, Pillon R, Pasini A.

2025/3 — pag. 186-190 — DOI

The paper reports the case of a 4-year-old girl with recurrent episodes of macrohematuria. Her family history revealed renal and ocular anomalies. Clinical and genetic analyses confirmed X-linked compound heterozygosity for Alport syndrome, with two ...

Quando la pelle racconta: dalle vescicole al gene NEMO

Marrazzo M.

2025/2 — pag. 43-44 — DOI

The paper presents the case of a 7-day-old newborn, born at term, with widespread cutaneous lesions on their limbs and trunk, sparing their face, palms and soles. The lesions, initially vesicular, evolved into crusts and hyperkeratosis, following Bla...

Ogni età ha la sua macroematuria

Delcaro G, Pennesi M.

2022/9 — pag. 598-600 — DOI

A girl with gross haematuria was finally diagnosed with X-linked Alport syndrome that was initially diagnosed as Berger syndrome. The clinical implication of X-linked Alport syndrome is discussed....

Rachitismo ipofosforemico X-linked

L. Lucchetti, D. Fintini, M. Cappa, F. Emma

2020/7 — pag. 430-436 — DOI

X-linked hypophosphatemia (XLH) is an X-linked disorder with dominant penetration, caused by mutations in the PHEX gene, which encodes for an endopeptidase that is predominantly expressed in osteoblasts, osteocytes and odontoblasts. PHEX mutations ...

Il gene del G6PD, le varianti cliniche e... la minestrina della nonna

M.L. Tortorella, F. Colonna, L. Fanti

2016/8 — pag. 526-528

Ma che gambe...!

F. Santoro

2014/8 — pag. 531-532

Un bambino Fragile

A. Baio

2013/9 — pag. 595-596

Il ritardo mentale: cause, genetica, intervento

F. Panizon

2011/8 — pag. 520-525

Mental retardation (MR) consists of: a) a defect of IQ higher than 2 SD (...

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...

Che strani capelli ha quel bambino?

2004/5 — pag. 326-326

The Authors described a case of a newborn affected by Menkes disease (MNK) with convulsions, connective tissue disorders and hair abnormalities. MNK is an X-linked recessive disorder characterised by a copper-transporting ATPase defect. Subcutaneo...

La malattia di Anderson-Fabry in età pediatrica

V.I. Guerci, M.G. Pittis, G. Ciana, et al.

2003/5 — pag. 309

Fabry disease is an X-linked, recessive inborn error of glycosphingolipid metabolism resulting from deficient alpha-galactosidase A activity. The codifying gene has been mapped in position Xq22.1 and more than 150 mutations are known, most of them ...

Incontinentia Pigmenti

S. Marinoni, T. Bardaro

2001/10

La sindrome dell’X fragile: recenti acquisizioni e prospettive future

S. Vatta, E. Bevilacqua, A. Belgrano, M. Morgutti, A. Amoroso

2000/8 — pag. 522-525