FKBP14-related Ehlers-Danlos syndrome: Expansion of the phenotype to include vascular complications

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1750-1755

  Murray, Mitzi L ^a   Yang, Margaret ^a   Fauth, Christine ^b   Byers, Peter H ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

Arterial dissection; Ehlers Danlos syndrome; FKBP14; Kyphoscoliosis

Indexed keywords

ADULT; ARTERY DISSECTION; ARTICLE; CELIAC ARTERY; CHILD; CHRONIC OBSTRUCTIVE LUNG DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA SEQUENCE; EHLERS DANLOS SYNDROME; FKBP14 GENE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC MARKER; HAPLOTYPE; HEARING IMPAIRMENT; HOMOZYGOTE; HUMAN; KYPHOSCOLIOSIS; MALE; MEDICAL HISTORY; MESENTERIC ARTERY OCCLUSION; MUSCLE MASS; NUCLEOTIDE SEQUENCE; PATIENT ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; RISK ASSESSMENT; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; SPINE FUSION; VASCULAR COMPLICATION; VASCULAR DISEASE; CASE REPORT; EHLERS-DANLOS SYNDROME; FACIES; GENETICS; MAGNETIC RESONANCE ANGIOGRAPHY; MESENTERIC VASCULAR OCCLUSION; MUTATION; PATHOLOGY; PEDIGREE; SUPERIOR MESENTERIC ARTERY;

FKBP14 PROTEIN, HUMAN; PEPTIDYLPROLYL ISOMERASE;

ADULT; DNA MUTATIONAL ANALYSIS; EHLERS-DANLOS SYNDROME; FACIES; GENETIC ASSOCIATION STUDIES; HUMANS; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; MESENTERIC ARTERY, SUPERIOR; MESENTERIC VASCULAR OCCLUSION; MUTATION; PEDIGREE; PEPTIDYLPROLYL ISOMERASE; PHENOTYPE;

EID: 84902537899     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36492     Document Type: Article

References (5)

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