Skip to Main Content

Paper Details

A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.
Am J Med Genet A
3
2022
CDH, NM_015100, POGZ, RNA, WHSUS, White-Sutton syndrome, autism spectrum disorder, behavioral abnormalities, c.2546-20T, canonical splice site, congenital diaphragmatic hernia, developmental delay, dysmorphic facial features, exon 18, hearing loss, hypotonia, intellectual disabilities, intronic variant, mRNA, microcephaly, ophthalmic abnormalities, patients, premature stop codon, sleep apnea, syndromic CDH
Author NameAffiliation
Shamika KetkarBaylor College of Medicine
Vernon R SuttonBaylor College of Medicine
Vernon R SuttonTexas Children's Hospital
  • 1 - 3

Datasets

Release 1.2