Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)
巨头畸形和指趾异常扩大了伴有智力发育障碍的高磷酸酶症 3 型 (HPMRS3) 的 PGAP2 变异体的表型谱
期刊:Human Mutation
影响因子:3.7
doi:10.1155/2024/5518289
Susgun, Seda; Ben-Mahmoud, Afif; Rüschendorf, Franz; Ku, Bonsu; Hussain, Syeda Iqra; Schulz, Solveig; Puk, Oliver; Biskup, Saskia; Labonne, Jonathan D J; Don, Dilan Wellalage; Gupta, Vijay; Choi, Tae-Ik; Khan, Saadullah; Wasif, Naveed; Lacassie, Yves; Layman, Lawrence C; Ugur Iseri, Sibel Aylin; Kim, Cheol-Hee; Kim, Hyung-Goo
