Craniofacial and Craniocervical Features in Cartilage-Hair Hypoplasia: A Radiological Study of 17 Patients and 34 Controls

BACKGROUND: Biallelic mutations in the non-coding RNA gene RMRP cause Cartilage-hair hypoplasia (CHH), a rare skeletal dysplasia in which the main phenotypic characteristic is severe progressive growth retardation. OBJECTIVE: This study compared the cranial dimensions of individuals with CHH to heal...

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Detalles Bibliográficos
Autores principales: Arponen, Heidi, Evälahti, Marjut, Mäkitie, Outi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8703216/
https://www.ncbi.nlm.nih.gov/pubmed/34956076
http://dx.doi.org/10.3389/fendo.2021.741548

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8703216/
https://www.ncbi.nlm.nih.gov/pubmed/34956076
http://dx.doi.org/10.3389/fendo.2021.741548

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