Article
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
Orphanet journal of rare diseases - 2 May 2015
Schlögel Matthieu J, Mendola Antonella, Fastré Elodie, Vasudevan Pradeep, Devriendt Koen, de Ravel Thomy J L, Van Esch Hilde, Casteels Ingele, Arroyo Carrera Ignacio, Cristofoli Francesca, Fieggen Karen, Jones Katheryn, Lipson Mark, Balikova Irina, Singer Ami, Soller Maria, Mercedes Villanueva María, Revencu Nicole, Boon Laurence M, Brouillard Pascal, Vikkula Miikka
Abstract excerpt
BACKGROUND: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11,...
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