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Article

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.

Journal of medical genetics - 1 Dec 2015

Hollstein Ronja, Parry David A, Nalbach Lisa, Logan Clare V, Strom Tim M, Hartill Verity L, Carr Ian M, Korenke Georg C, Uppal Sandeep, Ahmed Mushtaq, Wieland Thomas, Markham Alexander F, Bennett Christopher P, Gillessen-Kaesbach Gabriele, Sheridan Eamonn G, Kaiser Frank J, Bonthron David T

Abstract excerpt

BACKGROUND: The genetic aetiology of neurodevelopmental defects is extremely diverse, and the lack of distinctive phenotypic features means that genetic criteria are often required for accurate diagnostic classification. We aimed to identify the causative genetic lesions in two families in which eight affected individuals displayed variable learning disability, spasticity and abnormal gait. METHODS: Autosomal...

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Identifiers

PMID: 26424145
DOI: 10.1136/jmedgenet-2015-103344
PMCID: PMC4717446

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