Stüve–Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway Van De Maele, Karolien; Smulders, Charlotte; Ecury-Goossen, Ginette; More Van De Maele, Karolien; Smulders, Charlotte; Ecury-Goossen, Ginette; Rosina-Angelista, Irsa; Redeker, Egbert; van Haelst, Mieke Less Clinical Dysmorphology. 28(2):57-62, April 2019. Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy SDC
A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature Riccardi, Florence; Urquhart, Jill; McCullagh, Gary; More Riccardi, Florence; Urquhart, Jill; McCullagh, Gary; Lawrence, Peter; Douzgou, Sofia Less Clinical Dysmorphology. 28(2):66-70, April 2019. Favorites PDF Get Content & Permissions Buy SDC
