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Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.
Journal article

Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

  • Pasutto F Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Flinter F Department of Clinical Genetics, Guy's & St Thomas' NHS Foundation Trust, London, United Kingdom.
  • Rauch A Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Reis A Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
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  • 2017-11-24
Published in:
  • American journal of medical genetics. Part A. - 2018
Alleles
Anophthalmos
DNA Mutational Analysis
Family
Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Loss of Function Mutation
Lung Diseases
Male
Membrane Proteins
Microphthalmos
Pedigree
Phenotype
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://folia.unifr.ch/global/documents/41775
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