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 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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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 -