A novel deletion of IGF1 in a patient with idiopathic short stature provides insight into IGF1 haploinsufficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 1, 2014, Pages

  Batey, Lara ^a   Moon, Jennifer E ^a   Yu, Yongguo ^b   Wu, Bingbing ^c   Hirschhorn, Joel N ^d,e   Shen, Yiping ^b,e   Dauber, Andrew ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c CHILDREN S HOSPITAL OF FUDAN UNIVERSITY   (China)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SOMATOMEDIN; SOMATOMEDIN BINDING PROTEIN 3;

ARTICLE; BIRTH WEIGHT; CHILD; CHROMOSOME DELETION; CLINICAL EVALUATION; CLINICAL FEATURE; CLINODACTYLY; COPY NUMBER VARIATION; DYSLEXIA; EPICANTHUS; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GESTATIONAL AGE; HAPLOINSUFFICIENCY; HEAD CIRCUMFERENCE; HETEROZYGOTE; HUMAN; IGF1 GENE; INHERITANCE; MALE; MICROGNATHIA; PHENOTYPE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SHORT STATURE; SPEECH DISORDER;

CHILD; DNA COPY NUMBER VARIATIONS; DWARFISM; GENE DELETION; GROWTH CHARTS; HAPLOINSUFFICIENCY; HUMANS; INSULIN-LIKE GROWTH FACTOR I; MALE;

EID: 84892180357     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-3106     Document Type: Article

References (14)

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