Truncated SPAG9 As a Novel Candidate Gene for a New Syndrome: Coarse Facial Features, Albinism, Cataract and Developmental Delay (CACD Syndrome)

Majid Alfadhel, Bashayr S. Alhubayshi,Muhammad Umair, Ahmed Alfaidi, Deemah Alwadaani, Essra Aloyouni,Safdar Abbas,Abdulkareem Al Abdulrahman,Mohammed Aldrees,Abeer Al Tuwaijri, Ruaa S. Alharithy, Abdulaziz Alajlan,Abdulrahman Alswaid, Saad Almohrij, Sultan Al-Khenaizan

GENETICS AND MOLECULAR BIOLOGY（2025）

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SPAG9,oculocutaneous albinism,intellectual disability,cataract,frameshift variant

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