Konu "Hypoparathyroidism" için Scopus İndeksli Yayınlar Koleksiyonu listeleme
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Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
(Elsevier, 2023)Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced ...