High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism

Nina Makretskaya; Olga Bezlepkina; Anna Kolodkina; Alexey Kiyaev; Evgeny V. Vasilyev; Vasily Petrov; Svetlana Kalinenkova; Oleg Malievsky; Ivan I. Dedov; Anatoly Tiulpakov

doi:10.1371/journal.pone.0204323

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Open Access

Peer-reviewed

Research Article

High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism

Nina Makretskaya ,

Roles Data curation, Formal analysis, Writing – original draft

* E-mail: makretskayan@gmail.com

Affiliation Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Centre, Moscow, Russian Federation

http://orcid.org/0000-0003-0412-7140

⨯
Olga Bezlepkina,

Roles Resources

Affiliation Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Centre, Moscow, Russian Federation
⨯
Anna Kolodkina,

Roles Resources

Affiliation Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Centre, Moscow, Russian Federation
⨯
Alexey Kiyaev,

Roles Resources

Affiliation Department of Polyclinic Pediatrics, Ural State Medical University, Ekaterinburg, Russian Federation
⨯
Evgeny V. Vasilyev,

Roles Investigation

Affiliation Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Centre, Moscow, Russian Federation

http://orcid.org/0000-0003-1107-362X

⨯
Vasily Petrov,

Roles Investigation

Affiliation Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Centre, Moscow, Russian Federation
⨯
Svetlana Kalinenkova,

Roles Resources

Affiliation Genetics Laboratory, Moscow Regional Research and Clinical Institute, Moscow, Russian Federation
⨯
Oleg Malievsky,

Roles Resources

Affiliation Department of Hospital Pediatrics, Republican Children’s Clinical Hospital, Ufa, Russian Federation
⨯
Ivan I. Dedov,

Roles Conceptualization, Supervision

Affiliation Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Centre, Moscow, Russian Federation
⨯
Anatoly Tiulpakov

Roles Conceptualization, Writing – original draft

Affiliation Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Centre, Moscow, Russian Federation
⨯

High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism

Nina Makretskaya,
Olga Bezlepkina,
Anna Kolodkina,
Alexey Kiyaev,
Evgeny V. Vasilyev,
Vasily Petrov,
Svetlana Kalinenkova,
Oleg Malievsky,
Ivan I. Dedov,
Anatoly Tiulpakov

Published: September 21, 2018
https://doi.org/10.1371/journal.pone.0204323

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Thyroid
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Heterozygosity
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Pathogenesis
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Next-generation sequencing
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Mutation databases
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Amino acid sequence analysis
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Sequence databases
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Hypothyroidism
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