A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion

Am J Med Genet A. 2009 Nov;149A(11):2564-8. doi: 10.1002/ajmg.a.33056.

Authors

Philippe A Lysy¹, Marie Ravoet, Sandrine Wustefeld, Pierre Bernard, Marie-Cécile Nassogne, Elisabeth Wyns, Catherine Sibille

Affiliation

¹ HPED Department, PEDI Unit, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, Belgium. [email protected]

PMID: 19842200
DOI: 10.1002/ajmg.a.33056

No abstract available

Publication types

Case Reports

MeSH terms

Chromosome Deletion*
Comparative Genomic Hybridization
Craniosynostoses / genetics*
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Mutation / genetics
Pregnancy
Skull / abnormalities
Syndrome