Moderate to Severe Short Stature and Joint Involvement in Individuals With <i>ACAN</i> Deletions
Although individuals with heterozygous ACAN deletions exhibit phenotypic variability, it is noticeable that they present with a quite homogeneous and age-dependent phenotype with a high proportion of severe joint problems.
Authors
- J Sáez (ORCID: https://orcid.org/0000-0001-5179-6107)
- Hermine A. van Duyvenvoorde (ORCID: https://orcid.org/0000-0003-0451-2065)
- Jorge Saraiva (ORCID: https://orcid.org/0000-0002-7232-3509)
- Karen Elise Heath (ORCID: https://orcid.org/0000-0002-5816-7044)
- Atilano Carcavilla (ORCID: https://orcid.org/0000-0003-1735-0237)
- M. Salcedo (ORCID: https://orcid.org/0009-0006-4836-0269)
- Christiaan de Bruin (ORCID: https://orcid.org/0000-0003-1478-2261)
- Silvia Modamio‐Høybjør (ORCID: https://orcid.org/0000-0002-2409-4422)
- Manuel Parrón (ORCID: https://orcid.org/0000-0003-0244-6762)
- Julián Nevado (ORCID: https://orcid.org/0000-0001-5611-2659)
- Lucia Sentchordi (ORCID: https://orcid.org/0000-0002-4083-3352)
- Sarina G. Kant (ORCID: https://orcid.org/0000-0001-8891-3952)
- Francisca Díaz (ORCID: https://orcid.org/0000-0003-1364-7586)
- Lourdes Rey‐Cordo
- Sérgio B. Sousa (ORCID: https://orcid.org/0000-0003-3921-1334)
- Iris González‐Cabaleiro
- José Luis Chamorro‐Martín
- Vanesa Cancela‐Muñiz
- Flavia Machado‐Fernandes
Institutions
- Universidad Complutense de Madrid (ES)
- Universitat de València (ES)
- Hospital Universitario La Paz (ES)
- Instituto de Salud Carlos III (ES)
- Erasmus MC (NL)
- Hospitais da Universidade de Coimbra (PT)
- University Hospital Complex Of Vigo (ES)
- IPO Porto (PT)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Hospital General Universitario De Valencia (ES)
- Hospital Universitario Infanta Leonor (ES)
- Universidad Autónoma de Madrid (ES)
- University of Coimbra (PT)
Publication Details
- Journal
- Clinical Endocrinology
- Published
- 2025-03-24
- DOI
- https://doi.org/10.1111/cen.15237
- Citations
- 1
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 1.82