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Article

Mid-trimester hyperechogenic bowel in a fetus of Turkish origin carrying a rarely seen mutation of cystic fibrosis.

Archives of Iranian medicine - 1 Jul 2012

Kazandi Mert, Turan Volkan, Selvi Demirtas Gulsah, Akercan Fuat, Aykut Ayca, Ozkinay Ferda

Abstract excerpt

Cystic fibrosis (CF) is one of the most common severe autosomal recessive genetic disorders, characterized primarily by chronic obstructive lung disease and maldigestion disorder. The disease is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Here we present a case of a fetus with hyperechogenic bowel, in which compound heterozygosity was established for the mutations...

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Identifiers

PMID: 22724884
DOI: 012157/AIM.0015

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CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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