Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family

The Journal of Pediatrics
Bettina BormRainer Rossi

Abstract

Two maternal half-brothers presented with huge cephalic hematoma, fatal in one. Skin morphology disclosed lack of elastic fibres. Their maternal uncle is moderately mentally handicapped and has extensive connective tissue disorders. In all these patients, an identical missense mutation in the ATP7A gene was found and confirmed Menkes' disease.

References

Mar 7, 1998·Journal of Molecular Evolution·K B Axelsen, M G Palmgren
Mar 18, 1999·Advances in Experimental Medicine and Biology·Z TümerN Horn
Jun 8, 2001·The Biochemical Journal·A G Lee, J M East
Jan 23, 2003·Genetic Testing·Po-Ching LiuStephen G Kaler

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Citations

Nov 6, 2009·European Journal of Human Genetics : EJHG·Zeynep Tümer, Lisbeth B Møller
Jan 19, 2011·The Journal of Biological Chemistry·Stephanie MateriaSharon La Fontaine
Dec 2, 2011·The Journal of Biological Chemistry·Stephanie MateriaSharon La Fontaine
Jun 28, 2006·Acta Paediatrica·Marco ZaffanelloGiorgio Zamboni
Mar 6, 2012·Journal of the American Academy of Dermatology·David R BerkZsolt Urban
Jul 20, 2014·Journal of Child Neurology·Alberto VerrottiGiangennaro Coppola
Nov 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jingrong TangStephen G Kaler
Mar 19, 2008·American Journal of Medical Genetics. Part a·Luitgard M Graul-NeumannCornelia Kraus
Jan 12, 2011·Nature Reviews. Neurology·Stephen G Kaler
Aug 15, 2021·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·May T MaungTeresita Padilla-Benavides

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