A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 10, 2014, Pages E2117-E2122

  Kerns, Sarah L ^a   Guevara Aguirre, Jaime ^b   Andrew, Shayne ^c   Geng, Juan ^d,e   Guevara, Carolina ^b   Guevara Aguirre, Marco ^b   Guo, Michael ^f,g   Oddoux, Carole ^h   Shen, Yiping ^d,e   Zurita, Andres ^b   Rosenfeld, Ron G ^c   Ostrer, Harry ^h   Hwa, Vivian ^c   Dauber, Andrew ^g,i  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b UNIVERSIDAD SAN FRANCISCO DE QUITO   (Ecuador)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

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

^f HARVARD MEDICAL SCHOOL   (United States)

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

^h ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

ⁱ CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; CYCLIN DEPENDENT KINASE INHIBITOR 1C; CYCLINE; GENOMIC DNA; CDKN1C PROTEIN, HUMAN;

ADULT; ADULTHOOD; ARTICLE; CDKN1C GENE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 11P; CLINICAL ARTICLE; DIABETES MELLITUS; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; INTRAUTERINE GROWTH RETARDATION; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; ONSET AGE; PEDIGREE ANALYSIS; PROTEIN BINDING; SEQUENCE ANALYSIS; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; TESTIS SIZE; ADRENAL GLAND; ADRENAL INSUFFICIENCY; BECKWITH WIEDEMANN SYNDROME; BLOOD; BODY HEIGHT; BODY WEIGHT; CHONDRODYSPLASIA; GENETIC LINKAGE; GENETICS; NON INSULIN DEPENDENT DIABETES MELLITUS; ORGAN SIZE; PANCREAS ISLET BETA CELL; PATHOLOGY; PEDIGREE; PHENOTYPE; PHYSIOLOGY; TESTIS; UROGENITAL TRACT MALFORMATION;

ADRENAL GLANDS; ADRENAL INSUFFICIENCY; ADRENOCORTICOTROPIC HORMONE; ADULT; AGE OF ONSET; BECKWITH-WIEDEMANN SYNDROME; BODY HEIGHT; BODY WEIGHT; CYCLIN-DEPENDENT KINASE INHIBITOR P57; DIABETES MELLITUS, TYPE 2; FEMALE; FETAL GROWTH RETARDATION; GENETIC LINKAGE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INSULIN-SECRETING CELLS; MALE; ORGAN SIZE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; TESTIS; UROGENITAL ABNORMALITIES;

EID: 84907662133     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-1949     Document Type: Article

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