Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature.

Engin Demir,Ceyda Tuna Kirsaçlioğlu,İnci Nur Saltik-Temizel,Gizem Ürel-Demir,Beren Karaosmanoğlu,Ekim Zihni Taşkiran,Pelin Özlem Şimşek-Kiper,Gülen Eda Utine,Zarife Kuloğlu,Aydan Kansu

Clinical dysmorphology（2023）

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摘要

Demir, Engina; Tuna Kirsaçlioğlu, Ceydaa; Saltik-Temizel, İnci Nurb; Ürel-Demir, Gizemc; Karaosmanoğlu, Berend; Taşkiran, Ekim Zihnid; Şimşek-Kiper, Pelin Özlemc; Utine, Gülen Edac; Kuloğlu, Zarifea; Kansu, Aydana Author Information

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neonatal ichthyosis–sclerosing,cholangitis syndrome,novel mutation

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