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holoprosencephaly


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holoprosencephaly

Holoprosencephaly

holoprosencephaly

Holoprosencephaly

Holoprosencephaly

SHH and Holoprosencephaly

How a Hedgehog might see holoprosencephaly

NOTCH, a new signaling pathway implicated in holoprosencephaly

The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

Ectopic sonic hedgehog signaling impairs telencephalic dorsal midline development: implication for human holoprosencephaly

Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation

Zebrafish model of holoprosencephaly demonstrates a key role for TGIF in regulating retinoic acid metabolism

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

Selective Depletion of Molecularly Defined Cortical Interneurons in Human Holoprosencephaly with Severe Striatal Hypoplasia

Semilobar Holoprosencephaly with Midline ‘Seam’: A Topologic and Morphogenetic Model Based Upon MRI Analysis

In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation

Molecular Characterization of Breakpoints in Patients with Holoprosencephaly and Definition of the HPE2 Critical Region 2p21

Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly

 

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A craniofacial developmental disorder in which there is a failure of the prosencephalon (embryonic forebrain) to develop; severe forms may cause cyclopia. The genetic basis is diverse: holoprosencephaly-1 (HPE1) maps to 21q22.3. HPE2 is caused by mutation in the SIX3 homeobox gene, HPE3 is caused by mutation in the sonic hedgehog gene, HPE4 is caused by mutation in the TGIF gene that encodes TGFβ-induced factor. HPE5 is caused by mutation in the ZIC2 gene that encodes zinc finger protein of the cerebellum-2. HPE6 maps to 2q37.1. HPE7 is caused by mutation in PTCH1 (see patched). HPE8 maps to 14q13. HPE9 is caused by mutation in the gli2 oncogene.

http://www.holoprosencephaly.net Website created by parents of children with this condition.

Subjects: Plastic and Reconstructive Surgery.


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