Short rib-polydactyly syndrome type II (Majewski): Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene
Author:
Funder
National Science Council
Mackay Memorial Hospital
Publisher
Elsevier BV
Subject
Obstetrics and Gynecology
Reference18 articles.
1. Skeletal dysplasia;Lachman,2007
2. Nosology and classification of genetic skeletal disorders: 2006 revision;Superti-Furga;Am J Med Genet,2007
3. An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings;Kannu;Am J Med Genet,2007
4. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis;Mill;Am J Hum Genet,2011
5. Second-trimester sonographic detection of short rib-polydactyly syndrome type II (Majewski) following an abnormal maternal serum biochemical screening result;Chen;Prenat Diagn,2003
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