Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene

Human Mutation

Volumn 35, Issue 7, 2014, Pages 809-813

  Cooper, Paige E ^a   Reutter, Heiko ^b   Woelfle, Joachim ^b   Engels, Hartmut ^b   Grange, Dorothy K ^a   van Haaften, Gijs ^c   van Bon, Bregje W ^d   Hoischen, Alexander ^d   Nichols, Colin G ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF BONN   (Germany)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cant syndrome; Hypertrichosis; KCNJ8; Kir6.1

Indexed keywords

ABC TRANSPORTER; ABCC9 PROTEIN; ADENOSINE TRIPHOSPHATE; CLONIDINE; CYSTEINE; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.1; SERINE; SULFONYLUREA RECEPTOR; SULFONYLUREA RECEPTOR 1; SULFONYLUREA RECEPTOR 2A; UNCLASSIFIED DRUG; ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; UK-ATP-1 POTASSIUM CHANNEL;

ABDOMINAL RADIOGRAPHY; ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD PRESSURE MEASUREMENT; CANTU SYNDROME; CARDIOMEGALY; CASE REPORT; CLINICAL FEATURE; ECHOCARDIOGRAPHY; ECHOGRAPHY; EXON; FACIES; GENE EXPRESSION; GENE FUNCTION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; GINGIVA HYPERPLASIA; HUMAN; HYPERTRICHOSIS; LABORATORY TEST; MACROCEPHALY; MACROSOMIA; MALE; MISSENSE MUTATION; PHARMACOLOGIC STRESS TESTING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKELETON MALFORMATION; THORAX RADIOGRAPHY; WILD TYPE; CHEMICAL STRUCTURE; CHEMISTRY; GENETIC DISEASES, X-LINKED; GENETICS; MEMBRANE POTENTIAL; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PROTEIN CONFORMATION;

ADOLESCENT; CARDIOMEGALY; DNA MUTATIONAL ANALYSIS; FACIES; GENETIC DISEASES, X-LINKED; HUMANS; HYPERTRICHOSIS; KATP CHANNELS; MALE; MEMBRANE POTENTIALS; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PROTEIN CONFORMATION;

EID: 84901984437     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22555     Document Type: Article

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