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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SHOX

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 Aggiornamento
Corto come il papā

G. Tornese

2019/7 — pag. 431-437

Familial short stature is the second cause of short stature immediately after constitutional delay of growth and puberty. So far, in case of familiarity for short stature, regular growth velocity, bone age compatible with chronological age, the ind...

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Growth Disorders (72) Mutation (62) Human Growth Hormone (35) Growth Hormone (29) Short stature (23) Genetica (22) Body Height (19) Genetics (19) Bassa statura (16) Dwarfism (16) High-Throughput Nucleotide Sequencing (13) Limb Deformities, Congenital (8) SHOX Gene (7) Growth hormone therapy (7) Next Generation Sequencing (6) Gene SHOX (6) Deformitā di Madelung (5) Sex Chromosome Aberrations (5) Madelung deformity (4) aorta bicuspide (3)