Calcium and bone

Microdeletion 22q11 and oesophageal atresia
Maria Cristina Digilio, Bruno Marino, Pietro Bagolan, Aldo Giannotti, Bruno Dallapiccola

Journal of Medical Genetics Feb 1999, 36 (2) 137-139; DOI: 10.1136/jmg.36.2.137
Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?
L I Al-Gazali, L Sztriha, J Punnose, W Shather, M Nork

Journal of Medical Genetics Feb 1999, 36 (2) 161-166; DOI: 10.1136/jmg.36.2.161
De novo 10q22 interstitial deletion
Lola Cook, David D Weaver, James K Hartsfield, Gail H Vance

Journal of Medical Genetics Jan 1999, 36 (1) 71-72; DOI: 10.1136/jmg.36.1.71
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation
Elisabeth Lajeunie, Vincent El Ghouzzi, Martine Le Merrer, Arnold Munnich, Jacky Bonaventure, Dominique Renier

Journal of Medical Genetics Jan 1999, 36 (1) 9-13; DOI: 10.1136/jmg.36.1.9

Main menu