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  2. Details for: Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
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Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. [electronic resource]

By:
  • Kolanczyk, Mateusz
Contributor(s):
  • Krawitz, Peter
  • Hecht, Jochen
  • Hupalowska, Anna
  • Miaczynska, Marta
  • Marschner, Katrin
  • Schlack, Claire
  • Emmerich, Denise
  • Kobus, Karolina
  • Kornak, Uwe
  • Robinson, Peter N
  • Plecko, Barbara
  • Grangl, Gernot
  • Uhrig, Sabine
  • Mundlos, Stefan
  • Horn, Denise
Producer: 20160106Description: 633-8 p. digitalISSN:
  • 1476-5438
Subject(s):
  • Abnormalities, Multiple -- diagnosis
  • Adolescent
  • Amino Acid Sequence
  • Cell Line
  • Child
  • Comparative Genomic Hybridization
  • Craniofacial Abnormalities -- diagnosis
  • Dandy-Walker Syndrome -- diagnosis
  • Exome
  • Gene Expression
  • Genes, X-Linked
  • Genetic Association Studies
  • Heart Septal Defects, Atrial -- diagnosis
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Intellectual Disability -- diagnosis
  • Male
  • Molecular Sequence Data
  • Mutation, Missense
  • Pedigree
  • Phenotype
  • Proteins -- chemistry
  • Sequence Alignment
Online resources:
  • Available from publisher's website
In: European journal of human genetics : EJHG vol. 23
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Publication Type: Case Reports; Journal Article

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Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

APA

Kolanczyk M., Krawitz P., Hecht J., Hupalowska A., Miaczynska M., Marschner K., Schlack C., Emmerich D., Kobus K., Kornak U., Robinson P. N., Plecko B., Grangl G., Uhrig S., Mundlos S. & Horn D. (20160106). Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. : European journal of human genetics : EJHG.

Chicago

Kolanczyk Mateusz, Krawitz Peter, Hecht Jochen, Hupalowska Anna, Miaczynska Marta, Marschner Katrin, Schlack Claire, Emmerich Denise, Kobus Karolina, Kornak Uwe, Robinson Peter N, Plecko Barbara, Grangl Gernot, Uhrig Sabine, Mundlos Stefan and Horn Denise. 20160106. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. : European journal of human genetics : EJHG.

Harvard

Kolanczyk M., Krawitz P., Hecht J., Hupalowska A., Miaczynska M., Marschner K., Schlack C., Emmerich D., Kobus K., Kornak U., Robinson P. N., Plecko B., Grangl G., Uhrig S., Mundlos S. and Horn D. (20160106). Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. : European journal of human genetics : EJHG.

MLA

Kolanczyk Mateusz, Krawitz Peter, Hecht Jochen, Hupalowska Anna, Miaczynska Marta, Marschner Katrin, Schlack Claire, Emmerich Denise, Kobus Karolina, Kornak Uwe, Robinson Peter N, Plecko Barbara, Grangl Gernot, Uhrig Sabine, Mundlos Stefan and Horn Denise. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. : European journal of human genetics : EJHG. 20160106.

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