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A Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia

open access: yesClinical Genetics, Volume 108, Issue 1, Page 86-91, July 2025.
Following clinical review of a 100 000 Genomes Project family with genetically‐unsolved CCD, we manually inspected read‐alignments and identified a deletion‐inversion‐deletion that removes the first two exons of CBFB. This cryptic variant comprised deletions of 1310/1935bp, was undetectable by array‐CGH and was likely mediated by palindromic AluSx ...
Alistair T. Pagnamenta   +6 more
wiley   +1 more source

Exploring the acceptability of a decision aid for rural women with a history of prior cesarean birth regarding subsequent mode of birth in Coatepeque, Guatemala. [PDF]

open access: yesFront Glob Womens Health
Jimenez-Zambrano A   +8 more
europepmc   +1 more source

Adhesion barriers in gynecologic surgeries and cesarean section: An Asia-Pacific expert panel consensus recommendation. [PDF]

open access: yesInt J Gynaecol Obstet
Tanigaki S   +8 more
europepmc   +1 more source

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