Isolated GH deficiency: Mutation screening and copy number analysis of HMGA2 and CDK6 genes

European Journal of Endocrinology

Volumn 165, Issue 4, 2011, Pages 537-544

  Gorbenko Del Blanco, Darya ^a,b,d   De Graaff, Laura C G ^a,b   Posthouwer, Dirk ^c   Visser, Theo J ^d   Hokken Koelega, Anita C S ^a,b  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b Dutch Growth Research Foundation   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE 6; DNA; HIGH MOBILITY GROUP A2 PROTEIN;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; CAUCASIAN; CDK6 GENE; CHROMOSOME 12Q; CHROMOSOME 12Q14 MICRODELETION SYNDROME; CHROMOSOME DELETION; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FEMALE; GENE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC SCREENING; GROWTH HORMONE DEFICIENCY; HAPLOINSUFFICIENCY; HETEROZYGOTE; HMGA2 GENE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NETHERLANDS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SHORT STATURE;

ADOLESCENT; BODY HEIGHT; CYCLIN-DEPENDENT KINASE 6; DNA; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENE DELETION; GENE DOSAGE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HMGA2 PROTEIN; HUMAN GROWTH HORMONE; HUMANS; INTRONS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NETHERLANDS; PITUITARY GLAND; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 80053490342     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-11-0478     Document Type: Article

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