RAPADILINO syndrome
Definition:
References:
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[1]. H Annika Siitonen, et al. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. Hum Mol Genet. 2003 Nov 1;12(21):2837-44. [Content Brief]
[2]. H Annika Siitonen, et al. The mutation spectrum in RECQL4 diseases. Eur J Hum Genet. 2009 Feb;17(2):151-8. [Content Brief]
[3]. Richard Kellermayer, et al. The versatile RECQL4. Genet Med. 2006 Apr;8(4):213-6. [Content Brief]
[4]. T Dietschy, et al. The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress. Cell Mol Life Sci. 2007 Apr;64(7-8):796-802. [Content Brief]
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