Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

doi:10.1002/ajmg.c.31332

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Article

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Aug 2012

Terhal Paulien A, van Dommelen Paula, Le Merrer Martine, Zankl Andreas, Simon Marleen E H, Smithson Sarah F, Marcelis Carlo, Kerr Bronwyn, Kinning Esther, Mansour Sahar, Hennekam Raoul C M, van der Hout Annemarie H, Cormier-Daire Valerie, Lund Allan M, Goodwin Linda, Mégarbané André, Lees Melissa, Betz Regina C, Tobias Edward S, Coucke Paul, Mortier Geert R

Abstract excerpt

From data collected via a large international collaborative study, we have constructed a growth chart for patients with molecularly confirmed congenital spondylo-epiphyseal dysplasia (SEDC) and other COL2A1 related dysplasias. The growth chart is based on longitudinal height measurements of 79 patients with glycine substitutions in the triple-helical domain of COL2A1. In addition, measurements of 27 patients with...

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PMID: 22791362
DOI: 10.1002/ajmg.c.31332

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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