Multiplex Ligation-Dependent Probe Amplification Improves the Detection Rate of NKX2.1 Mutations in Patients Affected by Brain-Lung-Thyroid Syndrome

Background: NKX2.1 mutations have been identified in patients displaying complete or partial brain-lung-thyroid syndrome, which can include benign hereditary chorea (BHC), hypothyroidism and/or lung disease. Aims and Methods: We evaluated the recently developed Multiplex Ligation-dependent Probe Amp...

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Veröffentlicht in:	Hormone research in paediatrics 2012-01, Vol.77 (3), p.146-151
Hauptverfasser:	Teissier, Raphaël, Guillot, Loïc, Carré, Aurore, Morandini, Melina, Stuckens, Chantal, Ythier, Hubert, Munnich, Arnold, Szinnai, Gabor, de Blic, Jacques, Clement, Annick, Leger, Juliane, Castanet, Mireille, Epaud, Ralph, Polak, Michel
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Child, Preschool Chorea - genetics Congenital Hypothyroidism - genetics Female Gene Deletion Humans Infant, Newborn Life Sciences Lung Diseases - genetics Male Mutation Nuclear Proteins - genetics Nucleic Acid Amplification Techniques - methods Original Paper Syndrome Thyroid Nuclear Factor 1 Transcription Factors - genetics
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