Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review.

Abstract excerpt

Short stature and intellectual disability are two of the major components of many dysmorphic syndromes. Jansen-de Vries syndrome (JDVS) is a rare syndromic disorder that was discovered recently using next-generation sequencing. It is characterized by hypotonia, developmental delay, a dysmorphic face, short stature, and high pain threshold and is caused by the variants of the protein phosphatase...

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