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

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 10, 2013, Pages

  Vasques, Gabriela A ^a   Amano, Naoko ^b   Docko, Ana J ^a   Funari, Mariana F A ^a   Quedas, Elisangela P S ^a   Nishi, Mirian Y ^a   Arnhold, Ivo J P ^a   Hasegawa, Tomonobu ^b   Jorge, Alexander A L ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC GMP; GONADORELIN AGONIST; HUMAN GROWTH HORMONE; LETROZOLE; NATRIURETIC PEPTIDE RECEPTOR B; NATRIURETIC PEPTIDE TYPE C;

ACROMESOMELIC DYSPLASIA; ALLELE; ARTICLE; CELL ASSAY; CHILD; CHONDRODYSPLASIA; CLINICAL ARTICLE; COHORT ANALYSIS; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DISEASE CLASSIFICATION; FEMALE; GENE SEQUENCE; GENETIC DATABASE; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HUMAN CELL; IDIOPATHIC SHORT STATURE; IN VITRO STUDY; MALE; MISSENSE MUTATION; NPR2 GENE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SCHOOL CHILD; SHORT STATURE;

BODY HEIGHT; CHILD; DWARFISM; FEMALE; HETEROZYGOTE; HUMANS; MALE; MUTATION; RECEPTORS, ATRIAL NATRIURETIC FACTOR;

EID: 84885237798     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-2142     Document Type: Article

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