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

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

Clinical Dysmorphology · 2010 · 10 citations · 4 references

DOI

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Abstract

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

References

4

Cleidocranial dysplasia: clinical and molecular genetics

Stefan Mundlos · Journal of Medical Genetics · 1999 · 418 citations

, , +17

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype

Lampros A. Mavrogiannis, Indira B. Taylor, Sally Davies et al. · European Journal of Human Genetics · 2005 · 83 citations · Full text

, , +9

A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity.

Ilan Golan, Markus N. Preising, H. Wagener et al. · PubMed · 2001 · 26 citations

, , +13

Cleidocranial dysplasia in a mother and her daughter within the scope of neurosurgery

Gülnür Tokuç, Perran Boran, Burak O. Boran · Journal of Neurosurgery Pediatrics · 2006 · 10 citations

, , +15