Virginia Fano - Publications

Diagnosis of hypochondroplasia: international Delphi consensus recommendations.

Journal: Nature reviews. Endocrinology

Published: August 04, 2026

Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type.

Journal: European journal of human genetics : EJHG

Published: December 01, 2025

Prevalence of low birth weight, short length, and body disproportion at birth in patients with skeletal dysplasias: A retrospective study.

Journal: Archivos argentinos de pediatria

Published: July 15, 2025

Title Not Found

Journal: Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)

Published: June 20, 2025

New Argentine head circumference references for people with achondroplasia from 0 to 21 years of age.

Journal: Archivos argentinos de pediatria

Published: April 09, 2025

Spine surgery in a rare case of Mégarbané-Dagher-Melki type spondylometaphyseal dysplasia. A Case Report.

Journal: European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society

Published: February 25, 2025

Burosumab Treatment in a Girl With Cutaneous Skeletal Hypophosphatemia Syndrome: 2-Year Follow-Up.

Journal: American journal of medical genetics. Part A

Published: November 21, 2024

Evaluation of functionality-mobility in patients with skeletal dysplasias. Application of the STEMS tool ("everyday symptoms and mobility screening tool for skeletal dysplasias").

Journal: American journal of medical genetics. Part A

Published: November 03, 2023

Growth in puberty in girls with hypochondroplasia, p.Asn540Lys-related mutations.

Journal: American journal of medical genetics. Part A

Published: August 11, 2023

Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related.

Journal: American journal of medical genetics. Part A

Published: August 07, 2023

Clinical and auxological characteristics and quality of life of 50 children and adolescents with segmental overgrowth syndromes at a single center.

Journal: Archivos argentinos de pediatria

Published: July 20, 2023

Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America.

Journal: Genetics in medicine open

Published: July 11, 2023