1.
Clin Case Rep
; 6(7): 1300-1307, 2018 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29988626
RESUMO
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 UBA2 to a minimal overlapping region.