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Article

Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing.

International journal of pediatric otorhinolaryngology - 1 Jun 2017

Talebi Farah, Ghanbari Mardasi Farideh, Mohammadi Asl Javad, Bavarsad Amir Hooshang, Tizno Saeed

Abstract excerpt

Lacrimo-auriculo-dento-digital syndrome (LADD) is a multiple congenital anomaly and a genetically heterogeneous disorder. The aim of this study was to identify the pathogenic gene in an Iranian family with LADD syndrome and review the literature on reported mutations that involved in pathogenesis of LADD syndrome. One novel variant, c.1882 G > A, in fibroblast growth factor receptor 3 (FGFR3) was identified by...

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Source

Identifiers

PMID: 28483234
DOI: 10.1016/j.ijporl.2017.04.016

Genes

FGFR3

Provenance

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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