Low, Karen J ;
Ansari, Morad ;
Abou Jamra, Rami...
Low , K J , Ansari , M , Abou Jamra , R , Clarke , A , El Chehadeh , S , Fitzpatrick , D R , Greenslade , M , Henderson , A , Hurst , J , Keller , K , Kuentz , P , Prescott , T , Roessler , F , Selmer , K K , Schneider , M C , Stewart , F , Tatton-Brown , K , Thevenon , J , Vigeland , M D , Vogt , J , Willems , M , Zonana , J , Study , D D D & Smithson , S F 2017 , ' PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features ' , European Journal of Human Genetics , vol. 25 , no. 5 , pp. 552-559 . https://doi.org/10.1038/ejhg.2017.27.
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2017
