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Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome.
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Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome.
Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome. Exp Clin Endocrinol Diabetes. 2018 02; 126(2):85-90.
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PubMed
subject areas
Athetosis
Child
Chorea
Congenital Hypothyroidism
Humans
Male
Mutation
PAX8 Transcription Factor
Respiratory Distress Syndrome, Newborn
Thyroid Nuclear Factor 1
authors with profiles
Samuel Refetoff