Asphyxiating thoracic dystrophy associated with IFT74 pathogenic variant: a case report

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Amir Abadi1, Banan Ateeq2, Hadeel Kittaneh2

  • 1Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine. s11840049@stu.najah.edu.

BMC Pediatrics
|November 2, 2026
PubMed
Abstract

Keywords:
Asphyxiating Thoracic DystrophyCiliopathyIFT74 pathogenic variantShort-rib thoracic dysplasia type 20

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