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Original Article
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Volume 348:1449-1454 April 10, 2003 Number 15
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Preimplantation Diagnosis for Sonic Hedgehog Mutation Causing Familial Holoprosencephaly
Yury Verlinsky, Ph.D., Svetlana Rechitsky, Ph.D., Oleg Verlinsky, M.S., Seckin Ozen, M.D., Tatyana Sharapova, M.S., Christina Masciangelo, M.S., Randy Morris, M.D., and Anver Kuliev, M.D., Ph.D.

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The sonic hedgehog (SHH) gene is a human homologue of the drosophila gene encoding inductive signals involved in patterning the early embryo and which is highly functionally conserved in many species.1 The gene was mapped to chromosome 7 (7q36), the locus for the gene involved in holoprosencephaly (HPE3).2 SHH mutations may cause the failure of cerebral hemispheres to separate into distinct left and right halves, leading to holoprosencephaly, which is one of the most common developmental anomalies of the forebrain and midface in humans.3 Although the majority of cases of holoprosencephaly are sporadic, familial cases are . . . [Full Text of this Article]

Case Report

Methods

Results

Discussion


Source Information

From the Reproductive Genetics Institute, Chicago.

Address reprint requests to Dr. Kuliev at 2825 N. Halsted St., Chicago, IL 60657, or at anverkuliev@hotmail.com.


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