Bowen-Conradi Syndrome
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1403-1
Reference5 articles.
1. Bowen P, Conradi GJ (1976) Syndrome of skeletal and genitourinary anomalies with unusual facies and failure to thrive in Hutterite sibs. Birth Defects Orig Artic Ser 12(6):101–108
2. Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J et al (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A 146A(8):1088–1098. https://doi.org/10.1002/ajmg.a.32245
3. Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E et al (2005) A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3. Am J Med Genet A 132a(2):136–143. https://doi.org/10.1002/ajmg.a.30420
4. Lowry RB, Innes AM, Bernier FP, McLeod DR, Greenberg CR, Chudley AE et al (2003) Bowen-Conradi syndrome: a clinical and genetic study. Am J Med Genet A 120a(3):423–428. https://doi.org/10.1002/ajmg.a.20059
5. Warda AS, Freytag B, Haag S, Sloan KE, Görlich D, Bohnsack MT (2016) Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment. Hum Mol Genet 25(24):5353–5364. https://doi.org/10.1093/hmg/ddw351
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