A case of cohesinopathy with a novel de-novo SMC1A splice site mutation

Clinical Dysmorphology

Volumn 22, Issue 4, 2013, Pages 143-145

  Hansen, Jörg ^a   Mohr, Julia ^b   Bürki, Sarah ^a   Lemke, Johannes R ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b CEGAT GMBH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN SMC1A; UNCLASSIFIED DRUG;

ARTICLE; BODY HEIGHT; CAMPTODACTYLY; CASE REPORT; CHILD; CLINICAL GENETICS; CLINODACTYLY; COHESINOPATHY; COMPARATIVE GENOMIC HYBRIDIZATION; DIAPHRAGM HERNIA; ELECTROENCEPHALOGRAPHY; EXOME; FACE DYSMORPHIA; FEBRILE CONVULSION; FEMALE; FETUS ECHOGRAPHY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HIP DYSPLASIA; HUMAN; INFECTION; KARYOTYPE 46,XX; MICROCEPHALY; MISSED ABORTION; NOSE MALFORMATION; PALPEBRAL FISSURE; PHENOTYPE; PHILTRUM; PRIORITY JOURNAL; RETROGNATHIA; SCHOOL CHILD; SEIZURE; SPONTANEOUS ABORTION; TONIC CLONIC SEIZURE; TWIN PREGNANCY;

CELL CYCLE PROTEINS; CHILD; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; FEMALE; HUMANS; INFANT, NEWBORN; MUTATION; RNA SPLICE SITES;

EID: 84888286498     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3283645439     Document Type: Article

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