Article
A Homozygous Mutation in 5' Untranslated Region of TNFRSF11A Leading to Molecular Diagnosis of Osteopetrosis Coinheritance With Wiskott-Aldrich Syndrome.
Journal of pediatric hematology/oncology - 1 Mar 2021
Chen Tianping, Sun Jun, Liu Guanghui, Yin Chuangao, Liu Haipeng, Qu Lijun, Fang Shijin, Shifra Ash, Gilad Gil
Abstract excerpt
Wiskott-Aldrich syndrome (WAS) and osteopetrosis are 2 different, rare hereditary diseases. Here we report clinical and molecular genetics investigations on an infant patient with persistent thrombocytopenia and prolonged fever. He was clinical diagnosed as osteopetrosis according to clinical presentation, radiologic skeletal features, and bone biopsy results. Gene sequencing demonstrated a de novo homozygous...
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