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A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated with Cleidocranial Dysplasia

Alistair T. Pagnamenta,Mona Hashim,Joanna Kennedy, Beth Lawton,Amaka C. Offiah,Jenny C. Taylor,Sarah F. Smithson

CLINICAL GENETICS（2025）

Cited 0|Views1
Key words
core-binding factor complex,palindrome,skeletal dysplasia,structural variant
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