Associated Papers
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Deden C et al.
Prenatal Diagnosis, 2020
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Ott CE et al.
Human Mutation, 2010
Perspectives on RUNX genes: an update.
Cohen MM
American Journal of Medical Genetics. Part A, 2009
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