Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 11, 2012, Pages 2815-2819

  Eggermann, Thomas ^a   Begemann, Matthias ^a   Gogiel, Magdalena ^a   Palomares, María ^b   Vallespín, Elena ^b   Fernández, Luis ^b   Cazorla, Rosario ^c   Spengler, Sabrina ^a   García Miñaúr, Sixto ^b  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^c HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

Author keywords

Copy number variation; Genomic imprinting; GRB10; Growth disturbances

Indexed keywords

ETIRACETAM; GROWTH FACTOR RECEPTOR BOUND PROTEIN 10; VALPROIC ACID;

ARTICLE; BECKWITH WIEDEMANN SYNDROME; BODY GROWTH; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHILD; CHROMOSOME 7P; CHROMOSOME 7P11; CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; DNA METHYLATION; ELECTROENCEPHALOGRAPHY; GENE DUPLICATION; GENE LOCUS; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HUMAN; HYPOPIGMENTATION; KARYOTYPING; MALE; MOTOR PERFORMANCE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SEIZURE; SILVER RUSSELL SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 7; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; GENE DUPLICATION; GENOMIC IMPRINTING; GRB10 ADAPTOR PROTEIN; GROWTH DISORDERS; HUMANS; INFANT; MALE; PHENOTYPE;

EID: 84867890147     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35612     Document Type: Article

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