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

Author:

Helenius Kjell,Ojala Liisa,Kainulainen Leena,Peltonen Sirkku,Hietala Marja,Parikka Vilhelmiina

Publisher

Elsevier BV

Subject

General Earth and Planetary Sciences,General Environmental Science

Reference16 articles.

1. A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes;F B Brueggemann;Clinical Dysmorphology,2016

2. A newborn with overlapping features of AEC and EEC syndromes;T H Celik;American Journal of Medical Genetics Part A,2011

3. Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome;J Celli;Cell,1999

4. A Case of Ankyloblepharon, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Ectrodactyly: Are the p63 Syndromes Distinct After All? Pediatric Dermatology;Y E Chiu;Limbal Stem Cell Deficiency and Ocular Phenotype in Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Caused by p63 Mutations,2011

5. Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia;P F Giampietro;American Journal of Medical Genetics Part A,2013

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