Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature von Wolthuis, David F.G.J, van Asbeck, Ellyze, Mohamed, Miski, Gardeitchik, Thatjana, Lim-Melia, Elizabeth R, Wevers, Ron A, Morava, Eva

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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies von Gardeitchik, Thatjana, Mohamed, Miski, Ruzzenente, Benedetta, Karall, Daniela, Guerrero-Castillo, Sergio, Dalloyaux, Daisy, van den Brand, Mariël, van Kraaij, Sanne, van Asbeck, Ellyze, Assouline, Zahra, Rio, Marlene, de Lonlay, Pascale, Scholl-Buergi, Sabine, Wolthuis, David F.G.J., Hoischen, Alexander, Rodenburg, Richard J., Sperl, Wolfgang, Urban, Zsolt, Brandt, Ulrich, Mayr, Johannes A., Wong, Sunnie, de Brouwer, Arjan P.M., Nijtmans, Leo, Munnich, Arnold, Rötig, Agnès, Wevers, Ron A., Metodiev, Metodi D., Morava, Eva

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Limited skin lesions in a haemodialysis patient von Wolthuis, David F.G.J., de Mare, Saskia, Verhave, Jacobien C.

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Spontaneous Splenic Rupture in an Ill Returned Traveller von Wolthuis, David Fgj, Bosboom, Ron W, Hassing, Robert-Jan

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A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract von Van Asbeck, Ellyze, Wolthuis, David F.G.J., Mohamed, Miski, Wevers, Ron A., Korenke, Cristoph G., Gardeitchik, Thatjana, Morava, Eva

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