In this study, we report a novel ARID1B mutation identified by whole-exome sequencing in a patient with clinical features characteristic to CSS. The patient is a 16-year-old female. She is the only ...
A team of doctors and practitioners implanted a ventriculoperitoneal shunt followed by a new operation to stabilize and reduce the size of the baby’s head in it's first week of life - the first time ...
Bannayan-Riley-Ruvalcaba Syndrome (BRRS) is a congenital genetic condition defined by a group of characteristic features. These include macrocephaly, intestinal polyps, pigmented penile macules, ...
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