PIK3R1-related immunodeficiency and SHORT syndrome
MONDO:1060136A group of disorders caused by a variation in PIK3R1 gene that produces a structurally altered but present p85α protein, disrupting PI3K signaling and leading to features such as immune deficiency, autoimmunity, short stature, and distinct facial and skeletal features.
0 clinical trials for this condition and its sub-types, 0 tagged with PIK3R1-related immunodeficiency and SHORT syndrome itself.
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Sub-types of PIK3R1-related immunodeficiency and SHORT syndrome
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SHORT syndrome 0 trials
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