B. Redeker
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View article: A specific mutation in <i>TBL1XR1</i> causes Pierpont syndrome
A specific mutation in <i>TBL1XR1</i> causes Pierpont syndrome Open
Background The combination of developmental delay, facial characteristics, hearing loss and abnormal fat distribution in the distal limbs is known as Pierpont syndrome. The aim of the present study was to detect and study the cause of Pier…