Stuve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway

Van De Maele, K; Smulders, C; Ecury-Goossen, G; Rosina-Angelista, I; Redeker, E; van Haelst, M

Van De Maele, K (reprint author), Univ Hosp Brussels, Dept Pediat KidZ Hlth Castle, Laarbeeklaan 101, B-1090 Jette, Belgium.

CLINICAL DYSMORPHOLOGY, 2019; 28 (2): 57

Abstract

Stuve-Wiedemann syndrome (OMIM #601559) is a rare, autosomal recessive disorder characterized by skeletal dysplasia, consecutive infections, feeding d......

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