Associated Papers
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.
Tooze RS et al.
Genes, 2023
36980886 (PubMed )
Supplement: genes-14-00615-s001.zip › Supplementary_Information.pdf
P4HB recurrent missense mutation causing Cole-Carpenter syndrome.
Balasubramanian M et al.
Journal of Medical Genetics, 2018
Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report.
Ouyang L et al.
Medicine, 2017
CRTAP mutation in a patient with Cole-Carpenter syndrome.
Balasubramanian M et al.
American Journal of Medical Genetics. Part A, 2015
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