Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

European Journal of Human Genetics

Volumn 22, Issue 11, 2014, Pages 1327-1329

  Vals, Mari Anne ^a,b,c   Õiglane Shlik, Eve ^a,b   Nõukas, Margit ^a,d   Shor, Riina ^e   Peet, Aleksandr ^a,b   Kals, Mart ^d   Kivistik, Paula Ann ^d   Metspalu, Andres ^a,d   Õunap, Katrin ^a,c  

^a UNIVERSITY OF TARTU   (Estonia)

^b TARTU UNIVERSITY HOSPITAL   (Estonia)

^c TARTU UNIVERSITY HOSPITAL   (Estonia)

^d UNIVERSITY OF TARTU   (Estonia)

^e TALLINN CHILDREN S HOSPITAL   (Estonia)

Author keywords

[No Author keywords available]

Indexed keywords

ARID1B PROTEIN; BARRIER TO AUTOINTEGRATION FACTOR; GENOMIC DNA; INSULIN; METFORMIN; PRASTERONE SULFATE; RISPERIDONE; UNCLASSIFIED DRUG; ARID1B PROTEIN, HUMAN; DNA BINDING PROTEIN; TRANSCRIPTION FACTOR;

ACANTHOSIS NIGRICANS; ADOLESCENT; AORTA VALVE REGURGITATION; ARNOLD CHIARI MALFORMATION; ARTICLE; BRACHYDACTYLY; CASE REPORT; CLINICAL FEATURE; COFFIN SIRIS SYNDROME; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; EXOME; EXON; FACIES; FEMALE; FRAMESHIFT MUTATION; GENE SEQUENCE; GENETIC DISORDER; HEPATOMEGALY; HETEROZYGOTE; HUMAN; HYPERINSULINEMIA; HYPERINSULINISM; HYPERTRICHOSIS; MACROCEPHALY; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OBESITY; OVARY POLYCYSTIC DISEASE; RARE DISEASE; STOP CODON; SYNDACTYLY; ALEXANDER DISEASE; CONGENITAL MALFORMATION; FACE; GENETICS; HAND MALFORMATION; INTELLECTUAL IMPAIRMENT; METABOLISM; MICROGNATHIA; MULTIPLE MALFORMATION SYNDROME; NECK;

ABNORMALITIES, MULTIPLE; ADOLESCENT; DNA-BINDING PROTEINS; FACE; FEMALE; FRAMESHIFT MUTATION; HAND DEFORMITIES, CONGENITAL; HEPATOMEGALY; HETEROZYGOTE; HUMANS; HYPERINSULINISM; INTELLECTUAL DISABILITY; MEGALENCEPHALY; MICROGNATHISM; NECK; OBESITY; POLYCYSTIC OVARY SYNDROME; TRANSCRIPTION FACTORS;

EID: 84908555810     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.25     Document Type: Article

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