Severe Neurodevelopmental Phenotype, Diagnostic and Treatment Challenges in Patients with SECISBP2 Deficiency
Athanasia Stoupa,Monica Malheiros Franca,Maha Abdulhadi-Atwan,Haruki Fujisawa,Manassawee Korwutthikulrangsri,Isis Marchand,Gabrielle Polak,Jacques Beltrand,Michel Polak,Dulanjalee Kariyawasam,Xiao-Hui Liao, Chantalle Raimondi,Connolly Steigerwald,Nicolas J. Abreu,Andrew J. Bauer,Aurore Carre, Charit Taneja, Allison Bauman Mekhoubad,Alexandra M. Dumitrescu GENETICS IN MEDICINE（2024）
关键词
Neurodevelopmental disorder,SECISBP2,Selenoprotein,Short stature,Thyroid hormone metabolism defect
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