New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00273000.pdf
Reference31 articles.
1. Benedict WF, Murphree AL, Banerjee A, Spina CA, Sparkes MC, Sparkes RS (1983) Patient with 13 chromosome deletion: evidence that the retinoblastoma gene is a recessive cancer gene. Science 219:973?975
2. Buhler EM, Buhler UK, Stadler GR, Jani L, Jurik LP (1980) Chromosome deletion and multiple cartilaginous exostoses. Eur J Pediatr 133:163?166
3. Carpenter NJ, Leichtman LG, Stamper S, Say B (1981) An infant with ring 17 chromosome and unusual dermatoglyphics: a new syndrome? J Med Genet 18:234?236
4. Chudley AE, Pabello PD, McAlphine PJ, Nickel BE, Shokeir MHK (1982) Ring chromosome 17 in a mentally retarded young man?clinical, cytogenetic, and biochemical investigations. Am J Med Genet 12:219?225
5. Culp W (1914) Ein Fall von vollkommenen Mangel der Grosshirnwindungen. Inaug Diss Heidelberg. Mainz: Mempes Verl Anst
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