Yazar "Sahin, Yavuz" için listeleme
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Eighth case of Li-Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype
Edizadeh, Masoud; Kaymakcalan, Hande; Valilou, Saeed Farajzadeh; Sahin, Yavuz (Wiley, 2023)Li-Campeau syndrome (LICAS) is an autosomal recessive disorder characterized by developmental delay, intellectual disability, genital anomalies, congenital heart defects, and dysmorphic features. LICAS is caused by biallelic ... -
Eighth patient with Li-Campeau sydrome and expansion of the phenotype
Kaymakcalan, Hande; Sahin, Yavuz; Edizadeh, Masoud; Karaveli, Halis (Springernature, 2023)[Abstract Not Available]