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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Terapia con ormone della crescita

2 articoli — 2021-2025

RI Casi indimenticabili
Bassa statura: tutta colpa del papā

Tornese G.

2025/9 — pag. 598-600 — DOI

A child with slow growth and normal hormonal tests shows distinctive physical features. Clinical exome sequencing reveals a mutation in the IHH gene, inherited from the father, who had initially been overlooked. The child responds very well to growth...

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....

Argomenti correlati
Growth Disorders (72) Mutation (62) Human Growth Hormone (35) Growth Hormone (29) Short stature (23) Ormone della crescita (16) Dwarfism (16) Bassa statura (16) Scurvy (12) Exome Sequencing (11) Limb Deformities, Congenital (8) Vitamin C deficiency (8) Growth hormone therapy (7) SHOX gene (7) Mutazione genetica (6) Genetic mutation (6) Deformitā di Madelung (5) Sex Chromosome Aberrations (5) Deficit di vitamina C (4) Genes, Dominant (4)