Novel mutation inTP63associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia
Author:
Affiliation:
1. Department of Pediatrics; University of Wisconsin-Madison; Madison, Wisconsin
2. Molecular Diagnostic Laboratory; Greenwood Genetic Center; Greenwood, South Carolina
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35885/fullpdf
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4. ΔNp63 regulates thymic development through enhanced expression of FgfR2 and Jag2;Candi;Proc Natl Acad Sci USA,2007
5. Hypoplastic thymus and T-cell reduction in EECUT syndrome;Frick;Am J Med Genet,1997
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1. Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant;European Journal of Medical Genetics;2023-05
2. Novel Phenotype Caused by a TP63 Variant: Overlapping EEC and AEC Features with Immunodeficiency and Enlargement of Left Cardiac Compartments in a Very Preterm Infant;SSRN Electronic Journal;2022
3. Il neonato con gli occhi socchiusi. La displasia ectodermica legata al gene TP63;Medico e Bambino pagine elettroniche;2021-04-30
4. Newborn Screening for Severe Combined Immunodeficiency: 10-Year Experience at a Single Referral Center (2009–2018);Journal of Clinical Immunology;2021-01-07
5. Ectrodactyly‐ectodermal dysplasia‐clefting syndrome presenting with bilateral choanal atresia and rectal stenosis;American Journal of Medical Genetics Part A;2020-05-31
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