Whole exome sequencing to identify genetic causes of short stature

Hormone Research in Paediatrics

Volumn 82, Issue 1, 2014, Pages 44-52

  Guo, Michael H ^a,b,c   Shen, Yiping ^b,e   Walvoord, Emily C ^d   Miller, Timothy C ^b   Moon, Jennifer E ^b   Hirschhorn, Joel N ^a,b,c   Dauber, Andrew ^b,c  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

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

^d INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

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

Author keywords

Growth disorder; Growth hormone; Short stature; Skeletal dysplasia; Whole exome sequencing

Indexed keywords

RECOMBINANT GROWTH HORMONE;

3 M SYNDROME; ARTICLE; BODY HEIGHT; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; EHLERS DANLOS SYNDROME; EXOME; FAMILY; FEMALE; FLOATING HARBOR SYNDROME; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; GROWTH DISORDER; HEREDITY; HORMONAL THERAPY; HUMAN; KENNY CAFFEY SYNDROME; MALE; PRIORITY JOURNAL; RISK FACTOR; SHORT STATURE; WHOLE EXOME SEQUENCING; CLINICAL TRIAL; GENETIC ASSOCIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; PRESCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; GENETIC DISEASES, INBORN; GENOME-WIDE ASSOCIATION STUDY; GROWTH DISORDERS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE;

EID: 84906934041     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000360857     Document Type: Article

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