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Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome
- Source :
- American journal of medical genetics. Part A. (7)
- Publication Year :
- 2011
-
Abstract
- Potocki-Lupski syndrome is a genomic disorder caused by duplication of 17p11.2. It is characterized by failure to thrive, intellectual disability, hypotonia, and behavioral difficulties. Structural renal anomalies have been observed in
- Subjects :
- Male
Potocki–Lupski syndrome
Adolescent
Chromosome Disorders
Biology
Bioinformatics
Kidney
Mice
Gene Duplication
Gene duplication
Intellectual disability
Chromosome Duplication
Genetics
medicine
Animals
Humans
Abnormalities, Multiple
Folliculin
Child
Urinary Tract
Genetics (clinical)
Chromosome Mapping
Infant
medicine.disease
Smith–Magenis syndrome
Hypotonia
Chromosome Banding
Disease Models, Animal
medicine.anatomical_structure
Phenotype
Child, Preschool
Failure to thrive
Female
medicine.symptom
Smith-Magenis Syndrome
Chromosomes, Human, Pair 17
Subjects
Details
- ISSN :
- 15524833
- Issue :
- 7
- Database :
- OpenAIRE
- Journal :
- American journal of medical genetics. Part A
- Accession number :
- edsair.doi.dedup.....e94e454fe0a0825430179e10820e561a