Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome

B Chabrol, K Martens, S Meulemans, A Cano, J Jaeken, G Matthijs, J W M Creemers

10.1136/bcr.08.2008.0719

February 2, 2009

Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum

C Orellana, Jordi Bernabeu, Sandra Monfort, Monica Rosello, Juan Silvestre Oltra, Irene Ferrer, Ramiro Quiroga, Isabel Martinez-garay, Francisco Martinez

10.1136/bcr.08.2008.0665

January 23, 2009

De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features

Oddmund Søvik, Suzanne Schubbert, Gunnar Houge, Solrun J Steine, Gunnar Norgård, Bernt Engelsen, Pål R Njølstad, Kevin Shannon, Anders Molven

10.1136/bcr.07.2008.0550

January 23, 2009

“Reflections” on an interesting case: an oropharyngeal foreign body presenting as cleft palate

10.1136/bcr.2007.046227

January 8, 2009

Congenital diaphragmatic hernia

10.1136/bcr.2007.051391

January 8, 2009