Sergio B. Sousa
Coimbra, Portugal
Last Updated: 09/26/2026
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Found 41 publications
Diagnosis of hypochondroplasia: international Delphi consensus recommendations.
Journal: Nature reviews. Endocrinology
Published: August 04, 2026
Nail-Patella Syndrome: Uncovering Vascular Involvement.
Journal: Joint bone spine
Published: June 27, 2026
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.
Journal: medRxiv : the preprint server for health sciences
Published: December 19, 2025
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions.
Journal: Clinical endocrinology
Published: January 09, 2025
Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum.
Journal: Orphanet journal of rare diseases
Published: October 30, 2024
Considerations for Anthropometry Specific to People with Disproportionate Short Stature.
Journal: Advances in therapy
Published: May 31, 2024
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.
Journal: Advances in therapy
Published: March 22, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndrome.
Journal: European journal of human genetics : EJHG
Published: March 05, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: December 21, 2023
Last Updated: 09/26/2026