PTPN4 germline variants result in aberrant neurodevelopment and growth

PTPN4 germline variants result in aberrant neurodevelopment and growth

Summary: Protein-tyrosine phosphatases (PTPs) are pleomorphic regulators of eukaryotic cellular responses to extracellular signals that function by modulating the phosphotyrosine of specific proteins. A handful of PTPs have been implicated in germline and somatic human disease. Using exome sequencin...

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Bibliographic Details
Main Authors: Joanna J. Chmielewska, Deepika Burkardt, Jorge Luis Granadillo, Rachel Slaugh, Shamile Morgan, Joshua Rotenberg, Boris Keren, Cyril Mignot, Luis Escobar, Peter Turnpenny, Melissa Zuteck, Laurie H. Seaver, Rafal Ploski, Magdalena Dziembowska, Anthony Wynshaw-Boris, Abidemi Adegbola
Format: Article
Language:English
Published: Elsevier 2021-07-01
Series:HGG Advances
Subjects:
Neurodevelopment
Developmental Delay
Intellectual Disability
Macrocephaly
Somatic growth anomaly
PTPN4
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247721000142

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http://www.sciencedirect.com/science/article/pii/S2666247721000142

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