Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report.
Schinagl, Carina; Melum, Guro Reinholt; Rødningen, Olaug Kristin; Bjørgo, Kathrine; Andresen, Jannicke Hanne.
J Med Case Rep
; 11(1): 226, 2017 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-28814329
A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality.
Dental approach for Apert syndrome in children: a systematic review.
Carpenter syndrome: a case report.
Atypical presentation of a newborn with Apert syndrome.
Mouse models of Apert syndrome.
Pfeiffer syndrome: analysis of a clinical series and development of a classification system.
Soluble form of FGFR2 with S252W partially prevents craniosynostosis of the apert mouse model.
Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome.
Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.