publication

Book Chapter

2020

Disorders of sex development.

more of publication

publications

BCAP31 associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy

2017

publications

“Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes”

2017

publications

. “Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.”