Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16).

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Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16).

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Transient neonatal hypothyroidism in a boy with unbalanced translocation t

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Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16).

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Transient neonatal hypothyroidism in a boy with unbalanced translocation t

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Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16).

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Transient neonatal hypothyroidism in a boy with unbalanced translocation t

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Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16).

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P1476

Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16).

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P2093

Francisco de Assis Rocha Neves

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Helton Estrela Ramos

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Iris Ferrari

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Juliana F Mazzeu

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Luciana A de A Secchi

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Mara Santos Córdoba

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P2860

Update of Newborn Screening and Therapy for Congenital Hypothyroidism

Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism

The ancient mammalian KRAB zinc finger gene cluster on human chromosome 8q24.3 illustrates principles of C2H2 zinc finger evolution associated with unique expression profiles in human tissues.

Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis

Congenital hypothyroidism.

Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003).

A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion

Neonatal transient hypothyroidism: aetiological study. Italian Collaborative Study on Transient Hypothyroidism

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito.

ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion.

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564-569

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scholarly article

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10.1590/S0004-27302012000800017

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P433

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P478

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P577

2012-11-01T00:00:00Z

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P5875

234086120

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23295299

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