Publications:

PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly.

Science Advances

Mzoughi, Slim S; Di Tullio, Federico F; Low, Diana H P DHP; Motofeanu, Corina-Mihaela CM; Ong, Sheena L M SLM; Wollmann, Heike H; Wun, Cheng Mun CM; Kruszka, Paul P; Muenke, Maximilian M; Hildebrandt, Friedhelm F; Dunn, N Ray NR; Messerschmidt, Daniel M DM; Guccione, Ernesto E

Publication Date: 2020-01

Variant appearance in text: CXXC5: 215G>T; S72I

PubMed Link: 31950080

Variant Present in the following documents:

• aax9852_Tables_S1_to_S4.xlsx, sheet 15

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