STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly-Reference-Cited by-同舟云学术

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

Published:2014-09-14 Issue:1 Volume:134 Page:45-51
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Kakar Naseebullah,Ahmad Jamil,Morris-Rosendahl Deborah J.,Altmüller Janine,Friedrich Katrin,Barbi Gotthold,Nürnberg Peter,Kubisch Christian,Dobyns William B.,Borck Guntram

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-014-1487-4.pdf

Reference23 articles.

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3. Bendavid C, Dupe V, Rochard L, Gicquel I, Dubourg C, David V (2010) Holoprosencephaly: an update on cytogenetic abnormalities. Am J Med Genet C Semin Med Genet 154C:86–92. doi: 10.1002/ajmg.c.30250

4. Bennett H, Presti A, Adams D, Rios J, Benito C, Cohen D (2014) A prenatal presentation of severe microcephaly and brain anomalies in a patient with novel compound heterozygous mutations in the STIL gene found postnatally with exome analysis. Pediatr Neurol 51:434–436. doi: 10.1016/j.pediatrneurol.2014.05.023

5. Carr AL, Sun L, Lee E, Li P, Antonacci C, Gorbea E, Finlay C, Li L (2014) The human oncogene SCL/TAL1 interrupting locus is required for mammalian dopaminergic cell proliferation through the Sonic hedgehog pathway. Cell Signal 26:306–312. doi: 10.1016/j.cellsig.2013.11.010

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