Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression

American Journal of Medical Genetics

Volumn 101, Issue 2, 2001, Pages 174-177

  Stoler, Joan M ^a   Bromley, Bryann ^a   Castro, Mary Ames ^b   Cole, William G ^c   Florer, Jane ^d   Wenstrup, Richard J ^d  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d CINCINNATI CHILDREN S HOSPITAL RESEARCH FOUNDATION   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 5; COMPLEMENTARY DNA;

ADULT; AMNIOCENTESIS; AMNION; CASE REPORT; CHROMOSOME ABERRATION; EHLERS DANLOS SYNDROME; FEMALE; FETUS; FETUS MEMBRANE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; HUMAN; KARYOTYPE; LETTER; PLACENTA; PRIORITY JOURNAL; QUANTITATIVE ASSAY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADULT; ALLELES; AMNIOCENTESIS; AMNION; COLLAGEN; DNA; EHLERS-DANLOS SYNDROME; FEMALE; FETAL DEATH; HETEROZYGOTE; HUMANS; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 0035877146     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1331     Document Type: Letter

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