Article
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.
Journal of medical genetics - 1 Mar 2017
Koehler Katrin, Milev Miroslav P, Prematilake Keshika, Reschke Felix, Kutzner Susann, Jühlen Ramona, Landgraf Dana, Utine Eda, Hazan Filiz, Diniz Gulden, Schuelke Markus, Huebner Angela, Sacher Michael
Abstract excerpt
BACKGROUND: Triple A syndrome (MIM #231550) is associated with mutations in the AAAS gene. However, about 30% of patients with triple A syndrome symptoms but an unresolved diagnosis do not harbour mutations in AAAS. OBJECTIVE: Search for novel genetic defects in families with a triple A-like phenotype in whom AAAS mutations are not detected. METHODS: Genome-wide linkage analysis, whole-exome sequencing and...
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