Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene

Taiwanese Journal of Obstetrics and Gynecology

Volumn 51, Issue 2, 2012, Pages 266-270

  Chen, Chih Ping ^a,b,c,d,e   Chern, Schu Rern ^b   Chang, Tung Yao ^f   Su, Yi Ning ^g   Chen, Yi Yung ^b   Su, Jun Wei ^b,h   Wang, Wayseen ^b,i  

^a MACKAY MEDICAL COLLEGE   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

^c ASIA UNIVERSITY   (Taiwan)

^d CHINA MEDICAL UNIVERSITY   (Taiwan)

^e NATIONAL YANG MING UNIVERSITY   (Taiwan)

^f Taiji Fetal Medicine Center   (Taiwan)

^g NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^h CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

ⁱ TATUNG UNIVERSITY   (Taiwan)

Author keywords

NEK1; Prenatal diagnosis; Short rib polydactyly syndrome type III; Ultrasonography; Verma Naumoff

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CHONDRODYSPLASIA; FEMALE; FETUS ECHOGRAPHY; GENE; GENE MUTATION; GENETIC ANALYSIS; GESTATIONAL AGE; HETEROZYGOTE; HUMAN; INTRON; KARYOTYPE; NEK1 GENE; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; SECOND TRIMESTER PREGNANCY; SPLICING DEFECT;

ABORTION, INDUCED; ADULT; AMNIOCENTESIS; CELL CYCLE PROTEINS; FEMALE; HUMANS; INTRONS; KARYOTYPE; MALE; MIDDLE AGED; MUTATION; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PROTEIN-SERINE-THREONINE KINASES; SHORT RIB-POLYDACTYLY SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 84863882622     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2012.04.018     Document Type: Article

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