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Short stature with precocious puberty caused by aggrecan gene mutation: A case report

INTRODUCTION: The present study is carried out to review the clinical data and gene detection results of a pediatric patient with short stature, and to summarize the relationship between clinical phenotype and genotype of the child with Aggrecan (ACAN) gene mutation. PATIENT CONCERNS: Our study was...

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Pubblicato in:Medicine (Baltimore)
Autori principali: Wang, Yuanyuan, Ge, Juan, Ma, Jianying, Qiao, Lingyan, Li, Tang
Natura: Artigo
Lingua:Inglês
Pubblicazione: Lippincott Williams & Wilkins 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7447401/
https://ncbi.nlm.nih.gov/pubmed/32846772
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000021635
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