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Article

Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes.

Human mutation - 1 Dec 2020

Nagai-Tanima Momoko, Hong Sungkook, Hu Ping, Carrington Blake, Sood Raman, Roessler Erich, Muenke Maximilian

Abstract excerpt

Holoprosencephaly (HPE) is the most common congenital anomaly affecting the forebrain and face in humans and occurs as frequently as 1:250 conceptions or 1:10,000 livebirths. Sonic Hedgehog signaling molecule is one of the best characterized HPE genes that plays crucial roles in numerous developmental processes including midline neural patterning and craniofacial development. The Frizzled class G-protein coupled...

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PMID: 32906187
DOI: 10.1002/humu.24103

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