The first report of nephrocalcinosis in a patient with a 16q23.1-16q23.3 deletion, global developmental delay, trigonocephaly, and portocaval shunt

Clin Dysmorphol. 2013 Oct;22(4):152-155. doi: 10.1097/MCD.0000000000000007.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 16 / genetics*
  • Craniosynostoses / genetics
  • Craniosynostoses / pathology
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / pathology
  • Humans
  • Male
  • Nephrocalcinosis / genetics*
  • Nephrocalcinosis / pathology