Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9

American Journal of Medical Genetics, Part A

Volumn 161, Issue 2, 2013, Pages 295-300

  Czeschik, Johanna Christina ^a   Voigt, Claudia ^a   Goecke, Timm O ^b   Lüdecke, Hermann Josef ^a   Wagner, Nicholas ^a   Kuechler, Alma ^a   Wieczorek, Dagmar ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

Acromegaloid features; AFA syndrome; Cant syndrome; Gingival hypertrophy; SUR2; SUR2A; SUR2B

Indexed keywords

ABCC9 GENE; ACROMEGALOID FACIAL APPERANCE; ADOLESCENT; ARTERIOVENOUS MALFORMATION; ARTICLE; BRAIN HEMORRHAGE; CASE REPORT; COIL EMBOLIZATION; DEVELOPMENTAL DISORDER; EDEMA; EPICANTHUS; FACE MALFORMATION; FEMALE; GENE; GENE SEQUENCE; GINGIVA HYPERPLASIA; HUMAN; HYDRAMNIOS; HYPERBILIRUBINEMIA; HYPERTRICHOSIS; HYPERTRICHOSIS WITH ACROMEGALOID FACIAL APPERANCE; MACROCEPHALY; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATENT DUCTUS ARTERIOSUS; PERSISTENT PULMONARY HYPERTENSION; PHOTOTHERAPY; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; VON WILLEBRAND DISEASE;

ABNORMALITIES, MULTIPLE; ACROMEGALY; ADOLESCENT; ATP-BINDING CASSETTE TRANSPORTERS; CARDIOMEGALY; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; HUMANS; HYPERTRICHOSIS; LIMB DEFORMITIES, CONGENITAL; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG;

EID: 84872968357     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35735     Document Type: Article

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