Phenotype-genotype correlation in a familial IGF1R microdeletion case

Journal of Medical Genetics

Volumn 47, Issue 7, 2010, Pages 492-498

  Veenma, D C M ^a   Eussen, H J ^a   Govaerts, L C P ^a   De Kort, S W K ^a   Odink, R J ^b   Wouters, C H ^a   Hokken Koelega, A C S ^a   De Klein, A ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b CATHARINA HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

SOMATOMEDIN C RECEPTOR;

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME DELETION; CLINICAL ARTICLE; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; METAPHASE; MICROARRAY ANALYSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; CASE REPORT; CHROMOSOME 15; CHROMOSOME DISORDER; COHORT ANALYSIS; FACE; FINGER; GENE DELETION; GENETICS; NUCLEIC ACID AMPLIFICATION; PATHOLOGY; PEDIGREE; PHENOTYPE; PHYSIOLOGY; SYNDROME;

CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 15; COHORT STUDIES; FACE; FEMALE; FINGERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PEDIGREE; PHENOTYPE; RECEPTOR, IGF TYPE 1; SEQUENCE DELETION; SYNDROME;

EID: 77956098192     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.070730     Document Type: Article

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