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Article

Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation.

Clinical dysmorphology - 1 Jul 2010

Cardoso Bruno Miguel, Dupont Juliette, Castanhinha Susana, Ejarque-Albuquerque Margarida, Pereira Sónia, Miltenberger-Miltenyi Gabriel, Oliveira Graça

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Share to Amino Acid Substitution
Share to Bone Diseases, Developmental
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20299969
DOI: 10.1097/MCD.0b013e32833593a1

Genes

RUNX2

Variants

Provenance

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Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation.PMID 20299969Read ↗

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The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.Semantic proximity Read ↗

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Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.Semantic proximity Read ↗

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