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 Protein

2 articoli — 2019-2019

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...

RI Aggiornamento
Corto come il papà

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...

Argomenti correlati
Growth Disorders (74) Mutation (62) Human Growth Hormone (35) Growth hormone (29) Genetica (23) Short stature (23) Genetics (20) Body Height (20) Ormone della crescita (16) Dwarfism (16) Bassa statura (16) High-Throughput Nucleotide Sequencing (14) Osteochondrodysplasias (8) Limb Deformities, Congenital (8) SHOX Gene (7) Growth hormone therapy (7) Next Generation Sequencing (6) Gene SHOX (6) Léri-Weill dyschondrosteosis (5) Bone age (3)