Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
Pagnamenta AT, Yu J, Evans J, Twiss P; Genomics England Research Consortium; Musculoskeletal GeCIP MDT; Offiah AC, Wafik M, Mehta SG, Javaid MK, Smithson SF, Taylor JC.
Pagnamenta AT, et al. Among authors: javaid mk.
J Med Genet. 2023 May;60(5):505-510. doi: 10.1136/jmg-2022-108753. Epub 2022 Nov 21.
J Med Genet. 2023.
PMID: 36411030
Free PMC article.