Sibs affected with both Ehlers-Danlos syndrome type VI and cystic fibrosis

American Journal of Medical Genetics

Volumn 78, Issue 5, 1998, Pages 455-460

  Jarisch, Andrea ^a   Giunta, Cecilia ^b   Zielen, Stefan ^a   König, Rainer ^a   Steinmann, Beat ^b  

^a GOETHE UNIVERSITY   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Cystic fibrosis; Ehlers Danlos syndrome type VI; Lysyl hydroxylase deficiency; Urinary pyridinoline cross links

Indexed keywords

COLLAGEN; HYDROXYLYSINE; PYRIDINOLINE;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRONCHITIS; CASE REPORT; CHILD; CONSANGUINEOUS MARRIAGE; CYSTIC FIBROSIS; EHLERS DANLOS SYNDROME; FAILURE TO THRIVE; FEMALE; HUMAN; HYPERTROPHIC SCAR; JOINT DISLOCATION; KYPHOSCOLIOSIS; MARFAN SYNDROME; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; OSTEOPENIA; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SIBLING; TURKEY (REPUBLIC);

AMINO ACIDS; COLLAGEN; CONSANGUINITY; CYSTIC FIBROSIS; EHLERS-DANLOS SYNDROME; FEMALE; GENES, RECESSIVE; HAND DEFORMITIES, CONGENITAL; HUMANS; HYDROXYLYSINE; INFANT, NEWBORN; NUCLEAR FAMILY; PEDIGREE; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PROGNOSIS; SCOLIOSIS; TURKEY;

EID: 0031855574     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980806)78:5<455::AID-AJMG11>3.0.CO;2-E     Document Type: Article

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