Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Author:

Thorwarth Anne,Schnittert-Hübener Sarah,Schrumpf Pamela,Müller Ines,Jyrch Sabine,Dame Christof,Biebermann Heike,Kleinau Gunnar,Katchanov Juri,Schuelke Markus,Ebert Grit,Steininger Anne,Bönnemann Carsten,Brockmann Knut,Christen Hans-Jürgen,Crock Patricia,deZegher Francis,Griese Matthias,Hewitt Jacqueline,Ivarsson Sten,Hübner Christoph,Kapelari Klaus,Plecko Barbara,Rating Dietz,Stoeva Iva,Ropers Hans-Hilger,Grüters Annette,Ullmann Reinhard,Krude Heiko

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference87 articles.

1. Drosophila NK-homeobox genes;Kim;Proc Natl Acad Sci USA,1989

2. Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity;Guazzi;EMBO J,1990

3. Thyroid-specific enhancer-binding protein (T/EBP): cDNA cloning, functional characterization, and structural identity with thyroid transcription factor TTF-1;Mizuno;Mol Cell Biol,1991

4. The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary;Kimura;Genes Dev,1996

5. Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: evidence for a transformation of the pallidum into the striatum;Sussel;Development,1999

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