Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein
Page 1 of 1
Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein
Dauber A, LaFranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V. Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein. JCEM. 2012;[Epub ahead of print] doi:10.1210/jc.2012-2150
Similar topics
» Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome
» Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance
» KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
» TOPORS, Implicated in Retinal Degeneration, is a Cilia-Centrosomal Protein
» Alpha-catenin-Dependent Recruitment of the Centrosomal Protein CAP350 to Adherens Junctions Allows Epithelial Cells to Acquire a Columnar Shape
» Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance
» KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
» TOPORS, Implicated in Retinal Degeneration, is a Cilia-Centrosomal Protein
» Alpha-catenin-Dependent Recruitment of the Centrosomal Protein CAP350 to Adherens Junctions Allows Epithelial Cells to Acquire a Columnar Shape
Page 1 of 1
Permissions in this forum:
You cannot reply to topics in this forum