Longer Term Survival of a Child With Autosomal Recessive Cutis Laxa Due to a Mutation in FBLN4

American Journal of Medical Genetics, Part A

Volumn 161, Issue 5, 2013, Pages 1148-1153

  Sawyer, Sarah L ^a   Dicke, Frank ^b   Kirton, Adam ^b   Rajapkse, Thilinie ^b   Rebeyka, Ivan M ^c   Mcinnes, Brenda ^d   Parboosingh, Jillian S ^d,e   Bernier, Francois P ^d,e  

^a UNIVERSITY OF OTTAWA   (Canada)

^b UNIVERSITY OF CALGARY   (Canada)

^c UNIVERSITY OF ALBERTA   (Canada)

^d UNIVERSITY OF CALGARY   (Canada)

^e ALBERTA CHILDREN S HOSPITAL RESEARCH INSTITUTE   (Canada)

Author keywords

Arterial tortuosity; Autosomal recessive cutis laxa; FIBULIN 4; Homozygosity mapping

Indexed keywords

CAPTOPRIL; CLONIDINE; WARFARIN;

AORTA ANEURYSM; AORTA ROOT DILATATION; AORTA VALVE PROSTHESIS; ARTICLE; BICUSPID AORTIC VALVE; BRAIN VASOSPASM; BRONCHOPNEUMONIA; CASE REPORT; CHILD; CLINICAL FEATURE; CLUBFOOT; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; CONGENITAL HIP DISLOCATION; CONGENITAL SKIN DISEASE; CUTIS LAXA; DIAPHORESIS; DYSAUTONOMIA; ECHOCARDIOGRAPHY; EHLERS DANLOS SYNDROME; FAMILY HISTORY; FBLN4 GENE; FEMALE; FLUSHING; FUNNEL CHEST; GENE MUTATION; GENE SEQUENCE; HEADACHE; HEART DILATATION; HEART MURMUR; HERNIOPLASTY; HETEROZYGOSITY; HIP DYSPLASIA; HUMAN; HUMAN TISSUE; INGUINAL HERNIA; JOINT LAXITY; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; MALIGNANT HYPERTENSION; MUSCLE HYPOTONIA; MUTATOR GENE; NEWBORN; PATENT FORAMEN OVALE; PRESYNCOPE; PRIORITY JOURNAL; PYLORUS STENOSIS; SCHOOL CHILD; SKIN BIOPSY; SURVIVAL TIME; THORAX RADIOGRAPHY; TORTICOLLIS;

ADULT; CHILD; CHILD, PRESCHOOL; CUTIS LAXA; ELASTIC TISSUE; EXTRACELLULAR MATRIX PROTEINS; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SURVIVAL RATE;

EID: 84876807144     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35827     Document Type: Article

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