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New insights into the phenotypes of 6q deletions.
The only universal finding among all patients with 6q deletions was mental retardation, and other findings common to all 3 groups included ear anomalies, hypotonia, speech delays, and postnatal growth retardation.
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.
Recombinant human acid alpha-glucosidase is safe and effective for treatment of infantile-onset Pompe disease and the young age at which these patients initiated therapy may have contributed to their improved response compared to previous trials with recombinant human acids in which patients were older.
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry
Signs and symptoms of Fabry disease occurring during childhood and adolescence were characterized in 352 Fabry Registry patients, and many pediatric Fabry patients report early symptoms, particularly pain, gastrointestinal symptoms, and impaired quality of life.
Fabry disease revisited: Management and treatment recommendations for adult patients.
Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement
An international panel of physicians with expertise in Fabry disease has proposed guidelines for the recognition, evaluation, and surveillance of disease-associated morbidities, as well as therapeutic strategies, including enzyme replacement and other adjunctive therapies, to optimize patient outcomes.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
The phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype–phenotype correlation persists, and individuals with features of either GCPS or PHS should be screened for mutations inGLI3 even if they do not fulfill clinical criteria.
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region
Five families with SVAS who have small deletions in the WS region studied shared a deletion of LIMK1, which encodes a protein strongly expressed in the brain, supporting the hypothesis that LimK1 hemizygosity contributes to impairment in visuospatial constructive cognition.
Upper airway malformation associated with partial trisomy 11q
- Hui Zhao, A. Rope, H. Saal, R. Blough-Pfau, R. Hopkin
- MedicineAmerican journal of medical genetics. Part A
- 30 July 2003
Three of the four patients with partial trisomy 11q had the previously unreported finding of upper airway obstruction secondary to a malformed epiglottis, and the critical region for this malformation appears to be 11q21‐23.