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Article

Phenotypic evolution of UNC80 loss of function.

American journal of medical genetics. Part A - 1 Dec 2016

Valkanas Elise, Schaffer Katherine, Dunham Christopher, Maduro Valerie, du Souich Christèle, Rupps Rosemarie, Adams David R, Baradaran-Heravi Alireza, Flynn Elise, Malicdan May C, Gahl William A, Toro Camilo, Boerkoel Cornelius F

Abstract excerpt

Failure to thrive arises as a complication of a heterogeneous group of disorders. We describe two female siblings with spastic paraplegia and global developmental delay but also, atypically for the HSPs, poor weight gain classified as failure to thrive. After extensive clinical and biochemical investigations failed to identify the etiology, we used exome sequencing to identify biallelic UNC80 mutations...

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Identifiers

PMID: 27513830
DOI: 10.1002/ajmg.a.37929
PMCID: PMC5671762

Genes

UNC80

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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Phenotypic evolution of UNC80 loss of function.PMID 27513830Read ↗

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