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

Pasutto, Francesca; Flinter, Frances; Rauch, Anita; Reis, André

Pasutto, Francesca; Flinter, Frances; Rauch, Anita; Reis, André.

Affiliation

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.

Am J Med Genet A ; 176(1): 134-138, 2018 01.

Article in En | MEDLINE | ID: mdl-29168296

Subject(s)

Anophthalmos/diagnosis; Anophthalmos/genetics; Loss of Function Mutation; Lung Diseases/diagnosis; Lung Diseases/genetics; Membrane Proteins/genetics; Microphthalmos/diagnosis; Microphthalmos/genetics; Alleles; DNA Mutational Analysis; Family; Female; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Male; Pedigree; Phenotype

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Anophthalmos / Microphthalmos / Loss of Function Mutation / Lung Diseases / Membrane Proteins Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Germany

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