First Report of Prenatal Ascertainment of a Fetus With Homozygous Loss of the SOX10 Gene and Phenotypic Correlation by Autopsy Examination.

First Report of Prenatal Ascertainment of a Fetus With Homozygous Loss of the SOX10 Gene and Phenotypic Correlation by Autopsy Examination. Pediatr Dev Pathol. 2018 Nov-Dec; 21(6):561-567.

View in: PubMed

subject areas

Autopsy
Fatal Outcome
Female
Genetic Markers
Homozygote
Humans
Loss of Function Mutation
Phenotype
Pregnancy
Prenatal Diagnosis
SOXE Transcription Factors
Waardenburg Syndrome
Young Adult

authors with profiles

Cynthia A. Schandl
Nicholas I. Batalis
Daynna J. Wolff