The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the …
characterization has largely been restricted to cytogenetic resolution. We explored the …
Diagnostic value of exome and whole genome sequencing in craniosynostosis
KA Miller, SRF Twigg, SJ McGowan… - Journal of medical …, 2017 - jmg.bmj.com
Background Craniosynostosis, the premature fusion of one or more cranial sutures, occurs
in∼ 1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 …
in∼ 1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 …
Whole-exome sequencing identifies a de novo AHDC1 mutation in a Colombian patient with Xia-Gibbs syndrome
M García-Acero, J Acosta - Molecular Syndromology, 2017 - karger.com
Xia-Gibbs syndrome is an autosomal dominant multisystem developmental disorder
characterized by global developmental delay, hypotonia, obstructive sleep apnea, seizures …
characterized by global developmental delay, hypotonia, obstructive sleep apnea, seizures …
[HTML][HTML] Phenotype of a patient with a 1p36. 11-p35. 3 interstitial deletion encompassing the AHDC1
HY Park, M Kim, W Jang, DH Jang - Annals of laboratory medicine, 2017 - ncbi.nlm.nih.gov
Dear Editor, 1p36 deletion syndrome is the most common terminal chromosomal deletion in
humans, affecting 1 in 5,000 newborns [1-3]. Common clinical features include …
humans, affecting 1 in 5,000 newborns [1-3]. Common clinical features include …