A case of Ehlers Danlos syndrome type VI

Genetic Counseling

Volumn 17, Issue 3, 2006, Pages 291-294

  Salavoura, Katerina ^a,c   Valari, M ^a   Kolialexi, A ^b   Mavrou, A ^b   Kitsiou, S ^b  

^a AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^b UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^c Athens University School of Medicine ^*  (Greece)

Author keywords

EDS VI; PLOD 1 gene; Prenatal diagnosis

Indexed keywords

ASCORBIC ACID; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

ANAMNESIS; ARTERY RUPTURE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 13; CLINICAL EXAMINATION; CLINICAL FEATURE; COLLAGEN SYNTHESIS; DISEASE CLASSIFICATION; DRUG MEGADOSE; EARLY DIAGNOSIS; EHLERS DANLOS SYNDROME; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE SEQUENCE; GENETIC COUNSELING; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LABORATORY TEST; MUSCLE BIOPSY; MUSCLE HYPOTONIA; PLOD1 GENE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD;

BIOPSY; CHILD, PRESCHOOL; EHLERS-DANLOS SYNDROME; FEMALE; HUMANS; MUSCLE, SKELETAL; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE;

EID: 33750413645     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

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