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Comprehensive Genotype‐phenotype Correlation in AP‐4 Deficiency Syndrome; Adding Data from a Large Cohort of Iranian Patients

Maryam Beheshtian,Tara Akhtarkhavari,Sepideh Mehvari,Marzieh Mohseni,Zohreh Fattahi,Seyedeh Sedigheh Abedini,Sanaz Arzhangi,Mahsa Fadaee,Payman Jamali,Reza Najafipour,Vera M. Kalscheuer,Hao Hu,Hans-Hilger Ropers,Hossein Najmabadi,Kimia Kahrizi

Clinical genetics（2020）

引用 3|浏览93
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关键词
AP-4 deficiency syndrome,consanguinity,genotype-phenotype correlation,intellectual disability,Iranian families
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