1. (a) Normal Drosophila larva on left
(a) Normal Drosophila larva on left. The larva on the right has a mutation in the hedgehog gene. (b) Patient with holoprosencephaly with severe bilateral cleft lip and palate. He has a positive family history with 2 half-brothers also affected. (c,d) Brain MRI of the boy in frame b showing incomplete ventral induction (separation of midline)—semi-lobar holoprosencephaly. (e) Their mother has a minor expression of the condition as a single central incisor. She and all 3 boys have an SHH mutation. (a: Reprinted with permission from van den Brink GR. Hedgehog Signaling in Development and Homeostasis of the Gastrointestinal Tract Physiol Rev October :(4) ; doi: /physrev )
Source: Of Fruit Flies, Mice, and Patients: Tying It All Together, Medical Genetics: An Integrated Approach
Citation: Schaefer G, Thompson, Jr. JN. Medical Genetics: An Integrated Approach; 2017 Available at: Accessed: December 30, 2017
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