Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4166351 | The Journal of Pediatrics | 2009 | 8 Pages |
Abstract
These findings expand the phenotypes associated with MKS3 mutations. MKS3-related ciliopathies should be considered in patients with an ARPKD-like phenotype, especially in the presence of speech and oculomotor apraxia. In such patients, careful expert evaluation of the brain images can be beneficial because the brain malformations can be subtle.
Keywords
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Perinatology, Pediatrics and Child Health
Authors
Meral MD, Melissa A. MD, PhD, Dan MD, PhD, Maya Tuchman, Ekaterini MD, David E. MD, PhD, Marjan PhD, Baris MD, Peter MD, Lisa MD, Theo MD, Katarzyna Szymanska, Colin A. PhD, Ian MD, William A. MD, PhD,