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European Journal of Medical Genetics

Volumn 51, Issue 3, 2008, Pages 251-256

Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome

(5) Girisha, K M a Cormier Daire, Valerie b Heuertz, Solange b Phadke, Rajendra V a Phadke, Shubha R a

a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES (India)

b HÔPITAL NECKER ENFANTS MALADES (France)

Author keywords

Atlantoaxial dislocation; India; Morquio like syndrome; Mutation

Indexed keywords

ADULT; ARTICLE; ATLANTOAXIAL DISLOCATION; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DYGGVE-MELCHIORE-CLAUSEN SYNDROME; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; MENTAL DEFICIENCY; MORQUIO SYNDROME; RADIODIAGNOSIS; SHORT STATURE;

ADULT; ATLANTO-AXIAL JOINT; FEMALE; HOMOZYGOTE; HUMANS; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; SIBLINGS; SYNDROME;

EID: 43049159088 PISSN: 17697212 EISSN: None Source Type: Journal
DOI: 10.1016/j.ejmg.2007.12.004 Document Type: Article

Times cited : (9)

References (6)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.