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Article

NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis.

International journal of molecular sciences - 21 Mar 2022

Szczepanek-Parulska Ewelina, Budny Bartłomiej, Borowczyk Martyna, Zhukov Igor, Szutkowski Kosma, Zawadzka Katarzyna, Tahir Raiha, Minczykowski Andrzej, Niedziela Marek, Ruchała Marek

Abstract excerpt

Thyroid hemiagenesis (THA) is an inborn absence of one thyroid lobe of largely unknown etiopathogenesis. The aim of the study was to reveal genetic factors responsible for thyroid maldevelopment in two siblings with THA. None of the family members presented with congenital heart defect. The samples were subjected to whole-exome sequencing (WES) (Illumina, TruSeq Exome Enrichment Kit, San Diego, CA 92121, USA). An...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35328834
DOI: 10.3390/ijms23063414
PMCID: PMC8950672

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