Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia

Pediatrics International

Volumn 57, Issue 4, 2015, Pages 726-728

  Gohda, Yuji ^a   Oka, Shohki ^a   Matsunaga, Takamoto ^b   Watanabe, Satoshi ^c   Yoshiura, Koh Ichiro ^c   Kondoh, Tatsuro ^d   Matsumoto, Tadashi ^d  

^a Sasebo Kyosai Hospital   (Japan)

^b Matsunaga Clinic   (Japan)

^c NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d Misakaenosono Mutsumi Developmental   (Japan)

Author keywords

diazoxide; hyperinsulinism; hypoglycemia; Kabuki syndrome; KMT2D

Indexed keywords

DIAZOXIDE; GENOMIC DNA; GLUCAGON; GLUCOSE; HYDROCORTISONE; DNA BINDING PROTEIN; GLUCOSE BLOOD LEVEL; MLL2 PROTEIN, HUMAN; TUMOR PROTEIN;

APGAR SCORE; ARTICLE; BLOOD ANALYSIS; BREAST FEEDING; CASE REPORT; CLINICAL FEATURE; CONTINUOUS INFUSION; DISEASE SEVERITY; DRUG DOSE INCREASE; DRUG EFFICACY; EXCHANGE BLOOD TRANSFUSION; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GESTATIONAL AGE; GLUCOSE BLOOD LEVEL; HEART ATRIUM SEPTUM DEFECT; HETEROZYGOTE; HUMAN; JAPANESE (PEOPLE); KABUKI MAKEUP SYNDROME; KMT2D GENE; LABORATORY TEST; NEWBORN; NEXT GENERATION SEQUENCING; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; POLYCYTHEMIA; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TACHYPNEA; TRUNCATION MUTATION; VAGINAL DELIVERY; ABNORMALITIES; ABNORMALITIES, MULTIPLE; CONGENITAL HYPERINSULINISM; DEVELOPMENTAL DISORDER; DNA SEQUENCE; FACE; GENETICS; HEMATOLOGIC DISEASES; VESTIBULAR DISEASES;

ABNORMALITIES, MULTIPLE; BLOOD GLUCOSE; CONGENITAL HYPERINSULINISM; DEVELOPMENTAL DISABILITIES; DIAZOXIDE; DNA-BINDING PROTEINS; FACE; FEMALE; HEMATOLOGIC DISEASES; HUMANS; INFANT, NEWBORN; NEOPLASM PROTEINS; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; VESTIBULAR DISEASES;

EID: 84940608315     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/ped.12574     Document Type: Article

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