Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T>A and 79G>T in RMRP gene

Prenatal Diagnosis

Volumn 26, Issue 11, 2006, Pages 1018-1020

  Lam, Albert C F ^a   Chan, Daniel H C ^a   Tong, Tony M F ^a   Tang, Mary H Y ^b   Lo, Steven Y F ^c   Lo, Ivan F M ^a   Lam, Stephen T S ^a  

^a Clinical Genetic Service   (Hong Kong)

^b TSAN YUK HOSPITAL   (Hong Kong)

^c PAMELA YOUDE NETHERSOLE EASTERN HOSPITAL   (Hong Kong)

Author keywords

Cartilage hair hypoplasia; McKusick type; Metaphyseal chondrodysplasia; RMRP gene; Skeletal dysplasia

Indexed keywords

ARTICLE; BONE DYSPLASIA; CASE REPORT; CHINESE; CHONDRODYSPLASIA; CONGENITAL PACHYONYCHIA; FETUS; GENE; GENE INSERTION; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOSITY; HUMAN; HYPOPLASIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RADIODIAGNOSIS; RMRP GENE;

ABORTION, EUGENIC; ADULT; ENDORIBONUCLEASES; FEMALE; HETEROZYGOTE; HUMANS; MUTATION; OSTEOCHONDRODYSPLASIAS; PREGNANCY; SEQUENCE ANALYSIS, DNA;

EID: 33751325310     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1547     Document Type: Article

References (10)

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