Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome

Array CGH has led to the delineation of innumerable microdeletion syndromes. We present a patient with a 7-Mb deletion at 5q11.2 with previously unreported features, such as immunodeficiency, asymmetry of hands and feet, joint laxity, and agenesis of corpus callosum. The clinical features of this pa...

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Vydáno v:Mol Syndromol
Hlavní autoři: Arora, Veronica, Aggarwal, Shruti, Bijarnia, Sunita, Lall, Meena, Joshi, Anju, Dua-Puri, Ratna, Arora, Umang, Verma, Ishwar
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2019
Témata:
Novel Insights from Clinical Practice
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6381899/
https://ncbi.nlm.nih.gov/pubmed/30800048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000494995
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