Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling.

doi:10.1002/humu.23590

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Article

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling.

Human mutation - 1 Oct 2018

Roessler Erich, Hu Ping, Marino Juliana, Hong Sungkook, Hart Rachel, Berger Seth, Martinez Ariel, Abe Yu, Kruszka Paul, Thomas James W, Mullikin James C, Wang Yupeng, Wong Wendy S W, Niederhuber John E, Solomon Benjamin D, Richieri-Costa Antônio, Ribeiro-Bicudo L A, Muenke Maximilian

Abstract excerpt

Here, we applied targeted capture to examine 153 genes representative of all the major vertebrate developmental pathways among 333 probands to rank their relative significance as causes for holoprosencephaly (HPE). We now show that comparisons of variant transmission versus nontransmission among 136 HPE Trios indicates some reported genes now lack confirmation, while novel genes are implicated. Furthermore, we...

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PMID: 29992659
DOI: 10.1002/humu.23590

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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