Powis, Zöe

Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome. [electronic resource] - Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 319-323 p. digital

Publication Type: Case Reports; Journal Article

1093-5266

10.1177/1093526617698611 doi


Fatal Outcome
Female
Genetic Markers
Heterozygote
Humans
Hydrocephalus--diagnosis
Infant, Newborn
Pregnancy
Prenatal Diagnosis
Tubulin--genetics
Walker-Warburg Syndrome--complications
Exome Sequencing