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

*Corresponding author for this work

Research output: Contribution to journalLetter

3 Citations (Scopus)
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

Fingerprint

Nerve Tissue Proteins
Molecular Sequence Data
Intracellular Signaling Peptides and Proteins
Language Development Disorders
Failure to Thrive
Microcephaly
Heterozygote
Gene Expression
Mutation
Autosomal Recessive Primary Microcephaly

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Li, Mindy H. ; Arndt, Kelly ; Das, Soma ; Weiss, Elliott M. ; Wu, Yaning ; Gwal, Kriti ; Shekdar, Karuna V. ; Zackai, Elaine H. / Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay. In: American Journal of Medical Genetics, Part A. 2015 ; Vol. 167, No. 6. pp. 1414-1417.
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keywords = "Autosomal recessive primary microcephaly (MCPH), CDK5RAP2, Developmental delay, Failure to thrive, Microcephaly, Speech delay",
author = "Li, {Mindy H.} and Kelly Arndt and Soma Das and Weiss, {Elliott M.} and Yaning Wu and Kriti Gwal and Shekdar, {Karuna V.} and Zackai, {Elaine H.}",
year = "2015",
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doi = "10.1002/ajmg.a.36975",
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Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay. / Li, Mindy H.; Arndt, Kelly; Das, Soma; Weiss, Elliott M.; Wu, Yaning; Gwal, Kriti; Shekdar, Karuna V.; Zackai, Elaine H.

In: American Journal of Medical Genetics, Part A, Vol. 167, No. 6, 01.06.2015, p. 1414-1417.

Research output: Contribution to journalLetter

TY - JOUR

T1 - Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay

AU - Li, Mindy H.

AU - Arndt, Kelly

AU - Das, Soma

AU - Weiss, Elliott M.

AU - Wu, Yaning

AU - Gwal, Kriti

AU - Shekdar, Karuna V.

AU - Zackai, Elaine H.

PY - 2015/6/1

Y1 - 2015/6/1

KW - Autosomal recessive primary microcephaly (MCPH)

KW - CDK5RAP2

KW - Developmental delay

KW - Failure to thrive

KW - Microcephaly

KW - Speech delay

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U2 - 10.1002/ajmg.a.36975

DO - 10.1002/ajmg.a.36975

M3 - Letter

VL - 167

SP - 1414

EP - 1417

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 6

ER -