IMAGe syndrome: Clinical and genetic implications based on investigations in three Japanese patients

Clinical Endocrinology

Volumn 80, Issue 5, 2014, Pages 706-713

  Kato, Fumiko ^a   Hamajima, Takashi ^b   Hasegawa, Tomonobu ^c   Amano, Naoko ^c   Horikawa, Reiko ^d   Nishimura, Gen ^e   Nakashima, Shinichi ^a   Fuke, Tomoko ^f   Sano, Shinichirou ^f   Fukami, Maki ^f   Ogata, Tsutomu ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b AICHI CHILDREN'S HEALTH AND MEDICAL CENTER   (Japan)

^c KEIO UNIVERSITY   (Japan)

^d NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^e TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^f NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CORTICOTROPIN; CYCLIN DEPENDENT KINASE INHIBITOR 1C; GLUCOCORTICOID; MINERALOCORTICOID; CDKN1C PROTEIN, HUMAN;

ADRENAL CORTEX INSUFFICIENCY; ADRENAL GLAND; ADRENAL HYPOPLASIA; ADULT; ARACHNODACTYLY; ARTICLE; BONE MATURATION; CALCIUM URINE LEVEL; CASE REPORT; CHILD; CHROMOSOME 11P; COMPARATIVE GENOMIC HYBRIDIZATION; CORTICOTROPIN TEST; CRYPTORCHISM; DIET SUPPLEMENTATION; DNA MICROARRAY; DYSPLASIA; FEEDING DIFFICULTY; FEMALE; FRONTAL BOSSING; GAIN OF FUNCTION MUTATION; HUMAN; HYPOGLYCEMIA; HYPONATREMIA; HYPOPHYSIS GONAD SYSTEM; HYPOPLASIA; HYPOSPADIAS; INTRAUTERINE GROWTH RETARDATION; JAPANESE; KARYOTYPE 46,XX; KARYOTYPE 46,XY; LOW SET EAR; MACROCEPHALY; MALE; METAPHYSEAL DYSPLASIA; METAPHYSIS; MICROGNATHIA; MISSENSE MUTATION; OLIGOHYDRAMNIOS; OSTEOPENIA; PHENOTYPE; POSTNATAL GROWTH; PRIORITY JOURNAL; PYROSEQUENCING; SCHOOL CHILD; SCOLIOSIS; SEQUENCE ANALYSIS; VIRAL GASTROENTERITIS; ADOLESCENT; ADRENAL INSUFFICIENCY; CHROMOSOME 11; DNA METHYLATION; EXON; FETAL GROWTH RETARDATION; GENETICS; JAPAN; KARYOTYPING; MUTATION; OSTEOCHONDRODYSPLASIAS; UROGENITAL ABNORMALITIES;

ADOLESCENT; ADRENAL INSUFFICIENCY; CHILD; CHROMOSOMES, HUMAN, PAIR 11; COMPARATIVE GENOMIC HYBRIDIZATION; CYCLIN-DEPENDENT KINASE INHIBITOR P57; DNA METHYLATION; EXONS; FEMALE; FETAL GROWTH RETARDATION; HUMANS; JAPAN; KARYOTYPING; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; UROGENITAL ABNORMALITIES;

EID: 84898469006     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12379     Document Type: Article

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