Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 8, 2013, Pages

  Wang, Sophie R ^a,b,c   Carmichael, Heather ^a   Andrew, Shayne F ^d   Miller, Timothy C ^b   Moon, Jennifer E ^b   Derr, Michael A ^d   Hwa, Vivian ^d   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 OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE;

ADOLESCENT; ADULT; ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; EXOME; EXON; FALSE NEGATIVE RESULT; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IGF1R GENE; MAJOR CLINICAL STUDY; MALE; NEXT GENERATION SEQUENCING; NOONAN SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PROSPECTIVE STUDY; PTPN11 GENE; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE;

ADOLESCENT; ADULT; BODY HEIGHT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; GENETIC VARIATION; GROWTH DISORDERS; HUMAN GROWTH HORMONE; HUMANS; MALE; MUTATION; NOONAN SYNDROME; OSTEOCHONDRODYSPLASIAS; PROSPECTIVE STUDIES; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; RECEPTOR, IGF TYPE 1; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84881489852     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-1534     Document Type: Article

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