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European journal of human genetics : EJHG, ISSN 1018-4813, 06/2013, Volume 21, Issue 6, pp. 602 - 612
The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in 4100 patients by telomeric fluorescence in situ... 
brachydactyly | AHO-like syndrome | overweight | 2q37-deletion syndrome | intellectual disability | genotype-phenotype correlation | OSTEODYSTROPHY-LIKE PHENOTYPE | MOLECULAR CHARACTERIZATION | AUTISM | PROLACTIN-RELEASING PEPTIDE | BIOCHEMISTRY & MOLECULAR BIOLOGY | CANDIDATE REGION | 2Q37.3 DELETION | GENE | MENTAL-RETARDATION SYNDROME | ARRAY-CGH | GENETICS & HEREDITY | DUPLICATION | Overweight - complications | Humans | Child, Preschool | Intellectual Disability - complications | Male | Intellectual Disability - genetics | Fibrous Dysplasia, Polyostotic - genetics | Young Adult | Chromosomes, Human, Pair 2 - genetics | Adult | Female | Behavior | Fibrous Dysplasia, Polyostotic - complications | Child | Chromosome Deletion | Genetic Association Studies | Chromosome Disorders - complications | Overweight - genetics | Chromosome Mapping | DNA Copy Number Variations - genetics | Comparative Genomic Hybridization | Brachydactyly - genetics | Adolescent | Brachydactyly - complications | Chromosome Disorders - genetics | Intellectual disabilities | Body weight | Hybridization | Gene deletion | French language | Literature reviews | Genotype & phenotype | Databases | Language | Clonal deletion | Cell cycle | Fluorescence in situ hybridization | Genetics | Period 2 protein | Brachydactyly | Genotypes | Seizures | Obesity | Phenotypes | Calpain | Gene expression | Chromosome 2 | Autism | Osteodystrophy | Collaboration | Life Sciences | genotype–phenotype correlation
Journal Article
JAMA, ISSN 0098-7484, 12/2017, Volume 318, Issue 21, pp. 2099 - 2110
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 06/2016, Volume 36, Issue 6, pp. 523 - 529
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2018, Volume 55, Issue 6, pp. 422 - 429
Journal Article
Haematologica, ISSN 0390-6078, 01/2012, Volume 97, Issue 1, pp. 9 - 14
Journal Article
Journal Article
Blood, ISSN 0006-4971, 06/2011, Volume 117, Issue 23, pp. 6109 - 6119
Journal Article
Journal Article
Journal Article
Clinical Case Reports, ISSN 2050-0904, 04/2014, Volume 2, Issue 2, pp. 25 - 32
Key Clinical Message Copy losses/gains of the Williams–Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS... 
phenotype | Williams–Beuren critical region | prenatal BACs on beads | Array CGH | prenatal | Autism | Genotype & phenotype | Nuclear magnetic resonance--NMR | Laboratories | Fetuses | Genes | Genomes | Artificial chromosomes | Patients | Deoxyribonucleic acid--DNA | Case Reports
Journal Article