A frequent oligogenic involvement in congenital hypothyroidism

T de Filippis; G Gelmini; E Paraboschi; MC Vigone; Marianna Di Frenna; Federica Marelli; M Bonomi; Alessandra Cassio; D Larizza; M Moro; Giorgio Radetti; M Salerno; Diego Ardissino; G Weber; D Gentilini; F Guizzardi; S Duga; L Persani

doi:10.1093/hmg/ddx145

A frequent oligogenic involvement in congenital hypothyroidism

T de Filippis, G Gelmini, E Paraboschi, MC Vigone, Marianna Di Frenna, Federica Marelli, M Bonomi, Alessandra Cassio, D Larizza, M Moro, Giorgio Radetti, M Salerno, Diego Ardissino, G Weber, D Gentilini, F Guizzardi, S Duga, L Persani

Research output: Contribution to journal › Article › peer-review

Abstract

Congenital hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in

Original language	English
Pages (from-to)	2507-2514
Number of pages	8
Journal	Human Molecular Genetics
Volume	26
Issue number	13
DOIs	https://doi.org/10.1093/hmg/ddx145
Publication status	Published - 2017

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de Filippis, T., Gelmini, G., Paraboschi, E., Vigone, MC., Di Frenna, M., Marelli, F., Bonomi, M., Cassio, A., Larizza, D., Moro, M., Radetti, G., Salerno, M., Ardissino, D., Weber, G., Gentilini, D., Guizzardi, F., Duga, S., & Persani, L. (2017). A frequent oligogenic involvement in congenital hypothyroidism. Human Molecular Genetics, 26(13), 2507-2514. https://doi.org/10.1093/hmg/ddx145

de Filippis, T, Gelmini, G, Paraboschi, E, Vigone, MC, Di Frenna, M, Marelli, F, Bonomi, M, Cassio, A, Larizza, D, Moro, M, Radetti, G, Salerno, M, Ardissino, D, Weber, G , Gentilini, D , Guizzardi, F , Duga, S & Persani, L 2017, 'A frequent oligogenic involvement in congenital hypothyroidism', Human Molecular Genetics, vol. 26, no. 13, pp. 2507-2514. https://doi.org/10.1093/hmg/ddx145

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title = "A frequent oligogenic involvement in congenital hypothyroidism",

abstract = "Congenital hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in ",

author = "{de Filippis}, T and G Gelmini and E Paraboschi and MC Vigone and {Di Frenna}, Marianna and Federica Marelli and M Bonomi and Alessandra Cassio and D Larizza and M Moro and Giorgio Radetti and M Salerno and Diego Ardissino and G Weber and D Gentilini and F Guizzardi and S Duga and L Persani",

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AU - de Filippis, T

AU - Gelmini, G

AU - Paraboschi, E

AU - Vigone, MC

AU - Di Frenna, Marianna

AU - Marelli, Federica

AU - Bonomi, M

AU - Cassio, Alessandra

AU - Larizza, D

AU - Moro, M

AU - Radetti, Giorgio

AU - Salerno, M

AU - Ardissino, Diego

AU - Weber, G

AU - Gentilini, D

AU - Guizzardi, F

AU - Duga, S

AU - Persani, L

PY - 2017

Y1 - 2017

N2 - Congenital hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in

AB - Congenital hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in

U2 - 10.1093/hmg/ddx145

DO - 10.1093/hmg/ddx145

M3 - Article

VL - 26

SP - 2507

EP - 2514

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 13

ER -

A frequent oligogenic involvement in congenital hypothyroidism

Abstract

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