Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

por Danyel, Magdalena, Suk, Eun Kyung, Raile, Vera, Gellermann, Jutta, Knaus, Alexej, Horn, Denise
Publicado 2019