Severe early‐onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement... von Omarjee, L., Nitschke, Y., Verschuere, S., Bourrat, E., Vignon, M.‐D., Navasiolava, N., Leftheriotis, G., Kauffenstein, G., Rutsch, F., Vanakker, O.M., Martin, L.

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SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity von Pangrazio, Alessandra, Fasth, Anders, Sbardellati, Andrea, Orchard, Paul J, Kasow, Kimberly A, Raza, Jamal, Albayrak, Canan, Albayrak, Davut, Vanakker, Olivier M, De Moerloose, Barbara, Vellodi, Ashok, Notarangelo, Luigi D, Schlack, Claire, Strauss, Gabriele, Kühl, Jörn‐Sven, Caldana, Elena, Lo Iacono, Nadia, Susani, Lucia, Kornak, Uwe, Schulz, Ansgar, Vezzoni, Paolo, Villa, Anna, Sobacchi, Cristina

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Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region von Costrop, Laura MF, Vanakker, Olivier OM, Van Laer, Lut, Le Saux, Olivier, Martin, Ludovic, Chassaing, Nicolas, Guerra, Deanna, Ronchetti, Ivonne Pasquali, Coucke, Paul J, De Paepe, Anne

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Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region von Costrop, Laura MF, Vanakker, Olivier OM, Van Laer, Lut, Le Saux, Olivier, Martin, Ludovic, Chassaing, Nicolas, Guerra, Deanna, Ronchetti, Ivonne Pasquali, Coucke, Paul J, De Paepe, Anne

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Second family with the boston-type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum von Janssen, Alexander, Hosen, Mohammad J., Jeannin, Philippe, Coucke, Paul J., De Paepe, Anne, Vanakker, Olivier M.

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Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum : ultrasound findings in belgian patients and healthy carriers von VANAKKER, O. M, VOET, D, PETROVIC, M, VAN ROBAEYS, F, LEROY, B. P, COUCKE, P, DE PAEPE, A

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Angioid streaks beyond pseudoxanthoma elasticum von DE ZAEYTIJD, J, VANAKKER, OM, COUCKE, PJ, DE PAEPE, A, LEROY, BP

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