SPIN4-related X-linked overgrowth in a family.

Abstract excerpt

Spindlin Family Member 4 (SPIN4) is an epigenetic reader gene on the X chromosome. Its loss-of-function variant altering the WNT/β-catenin pathway was recently reported to cause a SPIN4-associated overgrowth syndrome in an extended family. The index case is a 14-year-old male with tall stature (+2.0 SD) as the only growth-related finding, accompanied by protruding joints, splenomegaly, low bone mineral density,...

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• Phenotype
• Pedigree
• Adolescent
• Cell Cycle Proteins
• Genetic Diseases, X-Linked