Burkardt, Deepika D'Cunha ;
Zachariou, Anna ;
Loveday, Chey...
Burkardt , D DC , Zachariou , A , Loveday , C , Allen , C L , Amor , D J , Ardissone , A , Banka , S , Bourgois , A , Coubes , C , Cytrynbaum , C , Faivre , L , Marion , G , Horton , R , Kotzot , D , Lay-Son , G , Lees , M , Low , K , Luk , H-M , Mark , P , McConkie-Rosell , A , McDonald , M , Pappas , J , Phillipe , C , Shears , D , Skotko , B , Stewart , F , Temple , I K , Mau-Them , F T , Verdugo , R A , Weksberg , R , Zarate , Y A , Graham , J M & Tatton-Brown , K 2019 , ' HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt : A study to clarify the HIST1H1E syndrome phenotype in 30 individuals ' , American Journal of Medical Genetics. Part A , vol. 179 , no. 10 , pp. 2049-2055 . https://doi.org/10.1002/ajmg.a.61321.
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2019
