Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature

Human Mutation

Volumn 36, Issue 4, 2015, Pages 474-481

  Wang, Sophie R ^a   Jacobsen, Christina M ^b   Carmichael, Heather ^c   Edmund, Aaron B ^d   Robinson, Jerid W ^d   Olney, Robert C ^e   Miller, Timothy C ^f   Moon, Jennifer E ^b   Mericq, Veronica ^g   Potter, Lincoln R ^d   Warman, Matthew L ^b,c,h   Hirschhorn, Joel N ^b,c,i   Dauber, Andrew ^b,i,j  

^a GENOME INSTITUTE OF SINGAPORE   (Singapore)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF MINNESOTA   (United States)

^e NEMOURS CHILDREN S CLINIC   (United States)

^f MASSACHUSETTS COLLEGE OF PHARMACY AND HEALTH SCIENCES   (United States)

^g UNIVERSITY OF CHILE   (Chile)

^h HOWARD HUGHES MEDICAL INSTITUTE   (United States)

ⁱ BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^j CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

more..

Author keywords

ISS; Natriuretic peptide receptor B; NPR2; Short stature

Indexed keywords

GROWTH HORMONE; NATRIURETIC PEPTIDE RECEPTOR B; ATRIAL NATRIURETIC FACTOR RECEPTOR;

ADULT; AGED; ARTICLE; BONE DYSPLASIA; COMORBIDITY; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GAIN OF FUNCTION MUTATION; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; IDIOPATHIC SHORT STATURE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; VERY ELDERLY; ALLELE; CHILD; DWARFISM; GENETIC ASSOCIATION STUDY; GENETIC VARIATION; GENETICS; METABOLISM; MUTATION; PEDIGREE; PRESCHOOL CHILD;

ALLELES; CHILD; CHILD, PRESCHOOL; DWARFISM; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, ATRIAL NATRIURETIC FACTOR; SEQUENCE ANALYSIS, DNA;

EID: 84925934920     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22773     Document Type: Article

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