title: Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.|Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
authors.forename: Mindy H
authors.initials: MH
authors.lastname: Li
authors.affiliation: Department of Human Genetics, The University of Chicago, Chicago, Illinois.
authors.forename: Kelly
authors.initials: K
authors.lastname: Arndt
authors.affiliation: Department of Human Genetics, The University of Chicago, Chicago, Illinois.
authors.forename: Soma
authors.initials: S
authors.lastname: Das
authors.affiliation: Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.|Division of Neonatology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.|Department of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, Pennsylvania.
authors.forename: Elliott M
authors.initials: EM
authors.lastname: Weiss
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Yaning
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Radiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Kriti
authors.initials: K
authors.lastname: Gwal
authors.affiliation: Department of Radiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Karuna V
authors.initials: KV
authors.lastname: Shekdar
authors.affiliation: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.|Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
mesh_terms: D001483:Base Sequence; D018797:Cell Cycle Proteins; D005183:Failure to Thrive / Q000235:genetics* / Q000473:pathology; D015870:Gene Expression; D006579:Heterozygote; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007805:Language Development Disorders / Q000235:genetics* / Q000473:pathology; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*
chemical_list: C405929:CDK5RAP2 protein, human; D018797:Cell Cycle Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009419:Nerve Tissue Proteins
keywords: CDK5RAP2; autosomal recessive primary microcephaly (MCPH); developmental delay; failure to thrive; microcephaly; speech delay