NewsTHE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISMMonday, March 16, 2026 · March 16, 2026
MECP2 Rare Variants in Boys With Central Precocious Puberty.
WHY IT MATTERS
Recent peer-reviewed research on Rare central precocious puberty that may be relevant for patients and caregivers.
Central precocious puberty (CPP) has strong genetic and epigenetic influences. MECP2, an X-linked gene, encodes a DNA methylation reader with a role in gene transcription regulation. MECP2 loss-of-function mutations are linked to neurodevelopmental disorders, particularly with Rett syndrome, a sever...
Related conditions
Related news
Int J Circumpolar Health · -222 days ago
A population-based legacy study of myasthenia gravis in Iceland: insights from a small Arctic nation
Published in Int J Circumpolar Health. Hjaltason H et al.…
Ther Adv Rare Dis · -192 days ago
Could an outcome-based agreement be operationalized using real-world data from the Canadian Neuromuscular Disease Registry? Perspectives from an expert-led assessment in spinal muscular atrophy
Published in Ther Adv Rare Dis. Mitha A et al.…
Health Inf Sci Syst · -192 days ago
PhenoRareAI: Phenotype-based intelligent diagnosis for rare neuromuscular disorders of glycogen storage disease and spinal muscular atrophy
Published in Health Inf Sci Syst. Zhai W et al.…
J Allergy Clin Immunol Glob · -39 days ago
Emerging trends and research hot spots in inborn error of immunity: A bibliometric perspective
Published in J Allergy Clin Immunol Glob. Alblooshi H et al.…