An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 5, 2015, Pages E789-E798

  De Bruin, Christiaan ^a   Mericq, Verónica ^b   Andrew, Shayne F ^a   Van Duyvenvoorde, Hermine A ^c   Verkaik, Nicole S ^d   Losekoot, Monique ^c   Porollo, Aleksey ^a   Garcia, Hernán ^e   Kuang, Yi ^a   Hanson, Dan ^f   Clayton, Peter ^f   Van Gent, Dik C ^d   Wit, Jan M ^c   Hwa, Vivian ^a   Dauber, Andrew ^a  

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

^b UNIVERSITY OF CHILE   (Chile)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^f UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ESTROGEN; HEMOGLOBIN; HEMOGLOBIN A1C; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; IMATINIB; INSULIN; LEVOTHYROXINE; METFORMIN; PANCREAS ISLET CELL ANTIBODY; PROTEIN TYROSINE KINASE INHIBITOR; RECEPTOR ANTIBODY; SUNITINIB; TESTOSTERONE; THYROID HORMONE RECEPTOR; THYROTROPIN; XRCC4 PROTEIN; DNA BINDING PROTEIN; XRCC4 PROTEIN, HUMAN;

ABDOMINAL CANCER; ABDOMINAL PAIN; ACANTHOSIS; ACANTHOSIS NIGRICANS; ADOLESCENT; ADULT; ANEMIA; ARTICLE; BONE AGE; BREAST DEVELOPMENT; CASE REPORT; CAUSE OF DEATH; CHILD; CLINODACTYLY; CRYPTORCHISM; DELAYED PUBERTY; DIABETES MELLITUS; DIET RESTRICTION; DISEASE COURSE; DISEASE SEVERITY; DNA REPAIR; DRUG SUBSTITUTION; DRUG WITHDRAWAL; DYSLIPIDEMIA; ECHOGRAPHY; FACE MALFORMATION; FAMILY HISTORY; GASTROINTESTINAL STROMAL TUMOR; GENE; GENE MUTATION; GENETIC ASSOCIATION; GESTATIONAL AGE; GROWTH DISORDER; HAIR GROWTH; HEAD CIRCUMFERENCE; HEMOGLOBIN BLOOD LEVEL; HORMONE BLOOD LEVEL; HORMONE SUBSTITUTION; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; HYPOGONADISM; INSULIN BLOOD LEVEL; INSULIN RESISTANCE; LABORATORY DIAGNOSIS; MALE; METABOLIC SYNDROME X; MICROCEPHALY; MICROGNATHIA; MICROPENIS; NEWBORN; ONSET AGE; ORAL GLUCOSE TOLERANCE TEST; ORCHIDOPEXY; PATIENT COMPLIANCE; PATIENT HISTORY OF THYROIDECTOMY; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; STOMACH SURGERY; TESTIS ATROPHY; TESTOSTERONE BLOOD LEVEL; TOXIC GOITER; VOICE DISORDER; XRCC4 GENE; BODY HEIGHT; EXOME; FEMALE; GENETICS; MUTATION;

ADULT; BODY HEIGHT; DNA-BINDING PROTEINS; EXOME; FEMALE; HUMANS; HYPOGONADISM; MALE; METABOLIC SYNDROME X; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SIBLINGS;

EID: 84929359433     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2015-1098     Document Type: Article

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