19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype
Open Access
- 28 May 2018
- journal article
- case report
- Published by Wiley in Clinical Case Reports
- Vol. 6 (7) , 1300-1307
Abstract
Key Clinical Message: We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia‐clefting ( EEC ) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion. After a review of the related literature, we suggest testing patients with EEC for 19q13.11 microdeletion and include WTIP and UBA 2 to a minimal overlapping region.Keywords
This publication has 25 references indexed in Scilit:
- Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63The American Journal of Human Genetics, 2012
- 19q13 microdeletion syndrome: Further refining the critical regionEuropean Journal of Medical Genetics, 2012
- 19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadiasEuropean Journal of Human Genetics, 2012
- Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 KbJournal of Medical Genetics, 2009
- 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisationJournal of Medical Genetics, 2009
- Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humansJournal of Clinical Investigation, 2008
- Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutationsAmino Acids, 2008
- Syndromic Ectrodactyly with Severe Limb, Ectodermal, Urogenital, and Palatal Defects Maps to Chromosome 19The American Journal of Human Genetics, 1998
- Structure, Sequence, and Chromosome 19 Localization of HumanUSF2and Its Rearrangement in a Patient with Multicystic Renal DysplasiaGenomics, 1996
- The EEC syndrome: a literature studyClinical Dysmorphology, 1996