Browsing PubMed İndeksli Yayınlar Koleksiyonu by Author "Wit, Jan M."

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Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant

Çatlı, Gönül; Gao, Wen; Foley, Corinne; Özyılmaz, Berk; Edeer, Neslihan; Diniz, Gülden; Losekoot, Monique; van Doorn, Jaap; Dauber, Andrew; Dündar, Bumin N.; Wit, Jan M.; Hwa, Vivian (Elsevier Ireland Ltd, 2022)

STAT5B deficiency, a rare autosomal recessive disorder characterized by severe growth hormone insensitivity (GHI) and immunodeficiency, can manifest as fatal pulmonary complications. We describe atypical STAT5B deficiency ...