Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - Support for the role of K(ATP) channels in this condition

European Journal of Medical Genetics

Volumn 56, Issue 12, 2013, Pages 678-682

  Brownstein, Catherine A ^a   Towne, Meghan C ^a   Luquette, Lovelace J ^b   Harris, David J ^a   Marinakis, Nicholas S ^a   Meinecke, Peter ^c   Kutsche, Kerstin ^c   Campeau, Philippe M ^d   Yu, Timothy W ^a   Margulies, David M ^a   Agrawal, Pankaj B ^a   Beggs, Alan H ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b Harvard Medical School Center for Biomedical Informatics   (United States)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Cant syndrome; Exome; Mutation; Potassium channel

Indexed keywords

ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL;

ARTICLE; CANTU SYNDROME; CARDIOMEGALY; CARDIOVASCULAR MALFORMATION; CHILD; CHONDRODYSPLASIA; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; GENE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; HYPERTRICHOSIS; KCNJ8 GENE; MACROSOMIA; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

CANTÚ SYNDROME; EXOME; MUTATION; POTASSIUM CHANNEL;

CARDIOMEGALY; CHILD; GENETIC DISEASES, X-LINKED; HUMANS; HYPERTRICHOSIS; KATP CHANNELS; MALE; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; SULFONYLUREA RECEPTORS;

EID: 84888060240     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.09.009     Document Type: Article

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