Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

Journal of medical genetics

Volumn 43, Issue 7, 2006, Pages

  Malfait, F ^a   Symoens, S ^a   Coucke, P ^a   Nunes, L ^a   De Almeida, S ^a   De Paepe, A ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 2(I) COLLAGEN; COLLAGEN;

CASE REPORT; CHILD; CONSANGUINITY; EHLERS DANLOS SYNDROME; FEMALE; FOOT MALFORMATION; GENE DELETION; GENETIC PREDISPOSITION; GENETICS; HAND MALFORMATION; HUMAN; LETTER; MALE; MOTOR ACTIVITY; SINGLE STRAND CONFORMATION POLYMORPHISM; VALVULAR HEART DISEASE;

CHILD; COLLAGEN; CONSANGUINITY; EHLERS-DANLOS SYNDROME; FEMALE; FOOT DEFORMITIES; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; HAND DEFORMITIES; HEART VALVE DISEASES; HUMANS; MALE; MOTOR ACTIVITY; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 33746813256     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2005.038224     Document Type: Letter

References (0)