A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones

American Journal of Medical Genetics, Part A

Volumn 146, Issue 24, 2008, Pages 3120-3125

  Heyen, Candy A ^a   Delk, Paula R ^a   Bull, Marilyn J ^a   Weaver, David D ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Contracture; Keloid; New syndrome; Uric acid kidney stones; X linked

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DUPUYTREN CONTRACTURE; FACE DYSMORPHIA; FAMILY HISTORY; GENETIC DISORDER; HUMAN; INTERPHALANGEAL JOINT; JOINT CONTRACTURE; KELOID; MALE; NEPHROLITHIASIS; ONSET AGE; OPTIC DISK; OPTIC DISK CUP; PRIORITY JOURNAL; SUBCUTANEOUS NODULE; URIC ACID STONE; X CHROMOSOMAL INHERITANCE;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CONTRACTURE; FEMALE; HUMANS; JOINTS; KELOID; KIDNEY CALCULI; MALE; MIDDLE AGED; OPTIC DISK; PEDIGREE; SYNDROME;

EID: 57149111057     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32573     Document Type: Article

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