Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay

Mindy H. Li, Kelly Arndt, Soma Das, Elliott M. Weiss, Yaning Wu, Kriti Gwal, Karuna V. Shekdar, Elaine H. Zackai

Research output: Contribution to journalLetterpeer-review

3 Scopus citations
Original languageEnglish (US)
Pages (from-to)1414-1417
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number6
DOIs
StatePublished - Jun 1 2015
Externally publishedYes

Keywords

  • Autosomal recessive primary microcephaly (MCPH)
  • CDK5RAP2
  • Developmental delay
  • Failure to thrive
  • Microcephaly
  • Speech delay

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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