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...

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Detalles Bibliográficos
Autores principales: Garg, Abhimanyu, El-Shanti, Hatem, Xing, Chao, Zhou, Zhengyang, Abujbara, Mousa, Al-Rashed, Khadeja, El-Khateeb, Mohammed, Ajlouni, Kamel, Agarwal, Anil K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Clinical Research Articles
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

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