Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC

American Journal of Medical Genetics, Part A

Volumn 146, Issue 23, 2008, Pages 3054-3057

  Bar Yosef, Omer ^a,b   Polak Charcon, Sylvie ^a   Hoffman, Chen ^a   Feldman, Zeev P ^a   Frydman, Moshe ^a   Kuint, Jacob ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b SHEBA MEDICAL CENTER   (Israel)

Author keywords

Cerebral hemorrhage; Collagen; Ehlers Danlos syndrome; Premature birth; Skull fractures

Indexed keywords

PROCOLLAGEN; PROTEINASE;

ADAMTS2 GENE; ANAMNESIS; ARTICLE; BRAIN HEMORRHAGE; CASE REPORT; CLINICAL FEATURE; COLLAGEN SYNTHESIS; CONGENITAL DISORDER; EHLERS DANLOS SYNDROME; EHLERS DANLOS SYNDROME TYPE VIIC; ELECTRON MICROSCOPY; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; INFANT; MALE; PEDIGREE; PRIORITY JOURNAL; SKIN BIOPSY; SKINFOLD; SKULL FRACTURE;

ADAM PROTEINS; CHORIONIC VILLI SAMPLING; EHLERS-DANLOS SYNDROME; FEMALE; FIBRILLAR COLLAGENS; HUMANS; INFANT, NEWBORN; INTRACRANIAL HEMORRHAGES; MALE; MUTATION; PEDIGREE; PREGNANCY; PREMATURE BIRTH; SKIN; SKULL FRACTURES; TOMOGRAPHY, X-RAY COMPUTED;

EID: 57149110046     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32541     Document Type: Article

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