1.
Clin Case Rep
; 6(7): 1282-1286, 2018 Jul.
Article
in English
| MEDLINE
| ID: mdl-29988690
ABSTRACT
The reporting of previously undescribed genetic mutations and resulting clinical phenotypes guides management and enables a more accurate prognosis for clinicians treating newborns with similar features. Previous cases of 6p deletions and 16p duplications have been described as separate entities. This patient presents with both and has a unique phenotype.