Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations

Indian Pediatrics

Volumn 48, Issue 7, 2011, Pages 559-567

  Reicherter, Kerstin ^a   Veeramani, Amithkumar Iynapillai ^b   Jagadeesh, Sujatha ^b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b Fetal Care Research Foundation   (India)

Author keywords

India; Metaphyseal chondrodysplasia; RMRP mutation; Skeletal dysplasia

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BODY HEIGHT; BODY WEIGHT; BRACHYDACTYLY; CARTILAGE HYPOPLASIA; CASE REPORT; EPIPHYSIS; FEMALE; GENE; GENE MUTATION; HAND RADIOGRAPHY; HETEROZYGOSITY; HUMAN; INDIA; MALE; METAPHYSIS; MOLECULAR DIAGNOSIS; PHALANX; RMRP GENE; SIBLING; SKELETON MALFORMATION;

EID: 80054765900     PISSN: 00196061     EISSN: 09747559     Source Type: Journal    
DOI: 10.1007/s13312-011-0086-x     Document Type: Article

References (10)

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