Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly
Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic [...]
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Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population
Vitamin D-Dependent Rickets Type 1A in Two Siblings with a [...]
Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions
Patients' priorities and expectations on an EU registry for rare [...]
Infectious spondylodiscitis and kyphosis correction in an infant: a case report
Infectious spondylodiscitis and kyphosis correction in an infant: a case [...]
Do Not Simply Pull a Dislocated Finger
Do Not Simply Pull a Dislocated Finger Nisticò D et [...]
Six-year-old boy with a slow-onset persistent back pain
Six-year-old boy with a slow-onset persistent back pain Caddeo G [...]
A child without kneecaps
A child without kneecaps Baldo F et al. J Paediatr [...]
Hypercalcemia during pregnancy: management and outcomes for mother and child
Hypercalcemia during pregnancy: management and outcomes for mother and child [...]
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification [...]
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome [...]
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