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Myhre syndrome: the first case in Korea

Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult because its features progress and become noticeable at sc...

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Detalles Bibliográficos
Autores principales: Lim, Dongjin, Kim, Jae Hyun, Lee, Jieun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8505036/
https://www.ncbi.nlm.nih.gov/pubmed/34015905
http://dx.doi.org/10.6065/apem.2040214.107