Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features

American Journal of Medical Genetics, Part A

Volumn 170, Issue 3, 2016, Pages 743-749

  Carrera, Ignacio Arroyo ^a,b   de Zaldívar, María Solo ^a   Martín, Rebeca ^a   Begemann, Matthias ^c   Soellner, Lukas ^c   Eggermann, Thomas ^c  

^a San Pedro de Alcántara Hospital   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

Genomic imprinting; MEST; Microdeletion 7q32.2; Silver Russell syndrome

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 7Q32.2; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; FAILURE TO THRIVE; FEEDING DIFFICULTY; GENE; GENE IDENTIFICATION; GENE MUTATION; HEART FAILURE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERCHOLESTEROLEMIA; HYPERMETROPIA; HYPOTHYROIDISM; KARYOTYPING; MALE; MEST GENE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; SYSTOLIC HEART MURMUR; ALLELE; BIOLOGY; CHROMOSOME 7; DNA METHYLATION; FACIES; GENETIC ASSOCIATION STUDY; GENETICS; GENOME IMPRINTING; PHENOTYPE; PROCEDURES; SILVER-RUSSELL SYNDROME;

ADOLESCENT; ALLELES; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; COMPUTATIONAL BIOLOGY; DNA METHYLATION; FACIES; GENETIC ASSOCIATION STUDIES; GENOMIC IMPRINTING; HUMANS; MALE; PHENOTYPE; SILVER-RUSSELL SYNDROME;

EID: 84959563177     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37492     Document Type: Article

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