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Characteristic Diagnostic Clues of Metatropic Dysplasia: The Lumbothoracic Humpback with Dumbbell Appearance of the Long Bones

Metatropic dysplasia (MD) is a rare skeletal dysplasia associated with heterozygous mutations in the TRPV4 gene. We describe a 28-month-old boy with knock-knees referred for metabolic investigation suspected of carrying vitamin D-resistant rickets. He has received regular vitamin D prophylaxis at th...

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Detalles Bibliográficos
Autores principales:	Gucev, Z, Kalcev, G, Laban, N, Bozinovski, Z, Popovski, N, Saveski, A, Daskalov, B, Plaseska-Karanfilska, D, Tasic, V
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sciendo 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454243/ https://www.ncbi.nlm.nih.gov/pubmed/30984522 http://dx.doi.org/10.2478/bjmg-2018-0025

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