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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Growth Hormone Therapy

2 articoli — 2019-2021

RI Casi indimenticabili
Una mano da SHOX

Bossini B, Pellegrin MC

2021/8 — pag. 525-526 — DOI

A gene SHOX haploinsufficiency was diagnosed in a 13-year-old girl with short stature. Madelung deformity was absent but some dysmorphism of the fingers and toes were present....

RI Problemi speciali
Bassa statura da deficit di gene SHOX: vecchi e nuovi concetti

M.C. Pellegrin, S. Andrade, E. Faleschini, E. Barbi, C. Bizzarri, G. Tornese

2019/7 — pag. 438-444

At the moment alterations of SHOX gene, located in the pseudoautosomal region of sex chromosomes, are considered the most frequent genetic defects associated with short stature. Pathogenic mutations leading to SHOX deficiency involve not just exons...

Argomenti correlati
Bassa statura (2) SHOX gene (2) Short stature (2) Growth hormone (2) Limb Deformities, Congenital (2) Bassa statura disarmonica (1) Human Growth Hormone (1) SHOX gene haploinsufficiency (1) Disproportionate short stature (1) Osteochondrodysplasias (1) Haploinsufficiency (1) Discondroosteosi di Léri-Weill (1) Ormone della crescita (1) X chromosome deletion (1) aorta bicuspide (1) Gene SHOX (1) short stature with skeletal abnormalities (1) Deformità di Madelung (1) Madelung Deformity (1) SHOX Protein (1)