@article{article, title = {{Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes}}, publisher = {{Elsevier BV}}, url = {{https://doi.org/10.1038/s41436-021-01136-7 }}, year = {{2021}}, month = {{4}}, author = {{Martin-Almedina S and Ogmen K and Sackey E and Grigoriadis D and Karapouliou C and Nadarajah N and Ebbing C and Lord J and Mellis R and Kortuem F and Dinulos MB et al}}, doi = {{10.1038/s41436-021-01136-7}}, volume = {{23}}, journal = {{Genetics in Medicine}}, issue = {{7}}, pages = {{1315-1324}}, note = {{Accessed on 2026/01/25}}}