Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2024）
Key words
congenital anomaly,ectopic nail,intellectual disability,interferon,proteasome,<italic>PSMD12</italic>,STISS
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