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Article

Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.

American journal of medical genetics. Part A - 1 Jan 2014

Manickam Kandamurugu, Donoghue Daniel J, Meyer April N, Snyder Pamela J, Prior Thomas W

Abstract excerpt

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is an extremely rare severe skeletal dysplasia characterized by significant developmental delay, brain structural abnormalities, hearing loss, and acanthosis nigricans. The disorder is the result of a single missense mutation at codon 650 (p.Lys650Met) in the fibroblast growth factor receptor 3 gene (FGFR3). We describe a child who...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 3

Source

Identifiers

PMID: 24352917
DOI: 10.1002/ajmg.a.36236

Genes

FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.PMID 24352917Read ↗

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.Semantic proximity Read ↗

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.Semantic proximity Read ↗

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Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice.Semantic proximity Read ↗

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