A Homozygous Mutation in 5′ Untranslated Region of TNFRSF11A Leading to Molecular Diagnosis of Osteopetrosis Coinheritance With Wiskott-Aldrich Syndrome

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 presen...

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Detalles Bibliográficos
Autores principales: Chen, Tianping, Sun, Jun, Liu, Guanghui, Yin, Chuangao, Liu, Haipeng, Qu, Lijun, Fang, Shijin, Shifra, Ash, Gilad, Gil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Online Articles: Clinical and Laboratory Observations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7993917/
https://www.ncbi.nlm.nih.gov/pubmed/32097281
http://dx.doi.org/10.1097/MPH.0000000000001760

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