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A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant
CONTEXT: Despite considerable progress in elucidating the molecular basis of various progeroid syndromes, some rare patients remain unexplained. OBJECTIVE: To elucidate molecular genetic basis of a novel autosomal recessive progeroid syndrome. PARTICIPANTS: A 24-year-old male and his 18-year-old sis...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7417871/ https://www.ncbi.nlm.nih.gov/pubmed/32803092 http://dx.doi.org/10.1210/jendso/bvaa088 |