Short rib-polydactyly syndrome type II (Majewski): Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene
Authors:
- 31 March 2012
- journal article
- case report
- Published by Elsevier in Taiwanese Journal of Obstetrics and Gynecology
- Vol. 51 (1) , 100-105
Abstract
No abstract availableKeywords
Funding Information
- National Science Council (NSC-97-2314-B-195-006-MY3, NSC-99-2628-B-195-001-MY3)
- Mackay Memorial Hospital (MMH-E-100-04)
This publication has 16 references indexed in Scilit:
- Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal CiliogenesisThe American Journal of Human Genetics, 2011
- Ellis-Van Creveld Syndrome: Prenatal Diagnosis, Molecular Analysis and Genetic CounselingTaiwanese Journal of Obstetrics and Gynecology, 2010
- Diagnosis of short rib polydactyly syndrome type IV (Beemer–Langer syndrome) with cystic hygroma: A case reportJournal of Clinical Ultrasound, 2009
- DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type IIIThe American Journal of Human Genetics, 2009
- An unclassifiable short rib‐polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblingsAmerican Journal of Medical Genetics Part A, 2007
- Nosology and classification of genetic skeletal disorders: 2006 revisionAmerican Journal of Medical Genetics Part A, 2006
- Short-Rib-Polydactyly Syndrome Presenting with Increased Nuchal Translucency in a High-Risk FamilyFetal Diagnosis and Therapy, 2006
- Second‐trimester sonographic detection of short rib–polydactyly syndrome type II (Majewski) following an abnormal maternal serum biochemical screening resultPrenatal Diagnosis, 2003
- Recurrent short rib-polydactyly syndrome with unusual associationsJournal of Clinical Ultrasound, 1999
- Prenatal diagnosis of recurrence of short rib-polydactyly syndromeAmerican Journal of Medical Genetics, 1995