Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Ritelli, Marco ^a   Chiarelli, Nicola ^a   Dordoni, Chiara ^a   Quinzani, Stefano ^a   Venturini, Marina ^b   Maroldi, Roberto ^a   Calzavara Pinton, Piergiacomo ^b   Colombi, Marina ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b SPEDALI CIVILI   (Italy)

Author keywords

Loeys Dietz syndrome type 4; Splicing mutation; TGF 2; TGFB2

Indexed keywords

GENOMIC DNA; SMAD3 PROTEIN; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; TRANSFORMING GROWTH FACTOR BETA2; TGFB2 PROTEIN, HUMAN;

ADULT; ARACHNODACTYLY; ARTERY DISSECTION; ARTHROSCOPIC SURGERY; ARTICLE; ASTIGMATISM; CASE REPORT; CHRONIC PAIN; CONSERVATIVE TREATMENT; CORSET; DNA FLANKING REGION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; EXON; FAMILY; FEMALE; FLATFOOT; FUNNEL CHEST; GASTROESOPHAGEAL REFLUX; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC SCREENING; HALLUX VALGUS; HAPLOINSUFFICIENCY; HASHIMOTO DISEASE; HEADACHE; HIATUS HERNIA; HIGH ARCHED PALATE; HUMAN; INTRON; JOINT LAXITY; KNEE MENISCUS RUPTURE; LOEYS DIETZ SYNDROME; LOEYS DIETZ SYNDROME TYPE 4; LONG PHILTRUM; LOSS OF FUNCTION MUTATION; MAGNETIC RESONANCE ANGIOGRAPHY; MICROGNATHIA; MIDDLE AGED; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; MOLECULAR DIAGNOSIS; MUSCLE HYPOTONIA; MYOPIA; NUCLEOTIDE SEQUENCE; PAROXYSMAL SUPRAVENTRICULAR TACHYCARDIA; PATELLA DISLOCATION; RECURRENT DISLOCATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCOLIOSIS; SKIN BRUISING; SPLICING DEFECT; STRIA; SYNDROME DELINEATION; TACHYCARDIA; TALL STATURE; TRANSLATION INITIATION; UMBILICAL HERNIA; VARICOSIS; FRAMESHIFT MUTATION; GENETICS; PATHOLOGY; PEDIGREE; POINT MUTATION; RNA SPLICING; STOP CODON; VASCULAR DISEASE;

ADULT; CODON, NONSENSE; FEMALE; FRAMESHIFT MUTATION; HAPLOINSUFFICIENCY; HUMANS; LOEYS-DIETZ SYNDROME; MIDDLE AGED; PEDIGREE; POINT MUTATION; RNA SPLICING; TRANSFORMING GROWTH FACTOR BETA2; VASCULAR DISEASES;

EID: 84910069592     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-014-0091-8     Document Type: Article

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