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Article

P4HB recurrent missense mutation causing Cole-Carpenter syndrome.

Journal of medical genetics - 1 Mar 2018

Balasubramanian Meena, Padidela Raja, Pollitt Rebecca C, Bishop Nicholas J, Mughal M Zulf, Offiah Amaka C, Wagner Bart E, McCaughey Janine, Stephens David J

Abstract excerpt

BACKGROUND: Cole-Carpenter syndrome (CCS) is commonly classified as a rare Osteogenesis Imperfecta (OI) disorder. This was following the description of two unrelated patients with very similar phenotypes who were subsequently shown to have a heterozygous missense mutation in P4HB. OBJECTIVES: Here, we report a 3-year old female patient with severe OI who on exome sequencing was found to carry the same missense...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29263160
DOI: 10.1136/jmedgenet-2017-104899

Genes

CCS

Variants

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