0000000000143204

AUTHOR

Małgorzata Kumorowicz-czoch

showing 2 related works from this author

Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome

2017

Abstract Objective To elucidate the molecular mechanism which causes thyroid dysgenesis (TD) in a boy with brain-lung-thyroid syndrome. Design, patients, measurements We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.1 (p.A329GfsX108). In vitro studies were performed to functionally characterize these mutations. Congenital hypothyroidism (CH) was identified by neonatal screening associated with a hypoplastic thyroid gland. Postpartum he developed a brain-lung-thyroid syndrome with severe respiratory failure, symptomatic epilepsy and a considerable psychomotor retardation. The DNA-bi…

Male0301 basic medicineCandidate geneEndocrinology Diabetes and MetabolismThyroid Nuclear Factor 1030105 genetics & heredityBiologymedicine.disease_causeThyroid dysgenesisPAX8 Transcription Factor03 medical and health sciencesEndocrinologyChoreaCongenital HypothyroidismInternal MedicinemedicineHumansChildAthetosisGeneRespiratory Distress Syndrome NewbornMutationPsychomotor retardationGeneral Medicinemedicine.diseasePhenotypeCongenital hypothyroidismMutationCancer researchmedicine.symptomPAX8Experimental and Clinical Endocrinology & Diabetes
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Mutations in the NKX2.1 and the PAX8 genes in a boy with thyroid dysgenesis, respiratory and neurological disorders

2015

s of the 51st Workshop for Pediatric Research 51st Workshop for Pediatric Research Gottingen, Germany

Pediatricsmedicine.medical_specialtybusiness.industryPediatric researcheducationBioinformaticsmedicine.diseaseThyroid dysgenesisDiabetes mellitusMeeting AbstractmedicineRespiratory systembusinessPAX8Molecular and Cellular Pediatrics
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