FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature
FBXO22 缺陷是一种多效性综合征，表现为生长受限和多系统异常，并伴有独特的表观遗传特征。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.03.013
Ramakrishna, Navin B; Mohamad Sahari, Umar Bin; Johmura, Yoshikazu; Ali, Nur Ain; Alghamdi, Malak; Bauer, Peter; Khan, Suliman; Ordoñez, Natalia; Ferreira, Mariana; Pinto Basto, Jorge; Alkuraya, Fowzan S; Faqeih, Eissa Ali; Mori, Mari; Almontashiri, Naif A M; Al Shamsi, Aisha; ElGhazali, Gehad; Abu Subieh, Hala; Al Ojaimi, Mode; El-Hattab, Ayman W; Said Al-Kindi, Said Ahmed; Alhashmi, Nadia; Alhabshan, Fahad; Al Saman, Abdulaziz; Tfayli, Hala; Arabi, Mariam; Khalifeh, Simone; Taylor, Alan; Alfadhel, Majid; Jain, Ruchi; Sinha, Shruti; Shenbagam, Shruti; Ramachandran, Revathy; Altunoğlu, Umut; Jacob, Anju; Thalange, Nandu; El Bejjani, Mireille; Perrin, Arnaud; Shin, Jay W; Al-Maawali, Almundher; Al-Shidhani, Azza; Al-Futaisi, Amna; Rabea, Fatma; Chekroun, Ikram; Almarri, Mohamed A; Ohta, Tomohiko; Nakanishi, Makoto; Alsheikh-Ali, Alawi; Ali, Fahad R; Bertoli-Avella, Aida M; Reversade, Bruno; Abou Tayoun, Ahmad
