A new lipid storage myopathy observed in individuals with the Ruvalcaba-Myhre-Smith syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference7 articles.
1. Ruvalcaba-myhre-Smith syndrome: A case with probable autosomal-dominant inheritance and additional manifestations
2. Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia
3. (1982): “Recognizable Patterns of Human Malformation.” Philadelphia: W.B. Saunders Co., p 387.
4. Cerebral Gigantism in Childhood
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