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SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, Albayrak C, Albayrak D, Vanakker OM, De Moerloose B, Vellodi A, Notarangelo LD, Schlack C, Strauss G, Kühl JS, Caldana E, Lo Iacono N, Susani L, Kornak U, Schulz A, Vezzoni P, Villa A, Sobacchi C. Pangrazio A, et al. Among authors: schlack c. J Bone Miner Res. 2013 May;28(5):1041-9. doi: 10.1002/jbmr.1849. J Bone Miner Res. 2013. PMID: 23280965 Free article.
RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.
Pangrazio A, Cassani B, Guerrini MM, Crockett JC, Marrella V, Zammataro L, Strina D, Schulz A, Schlack C, Kornak U, Mellis DJ, Duthie A, Helfrich MH, Durandy A, Moshous D, Vellodi A, Chiesa R, Veys P, Lo Iacono N, Vezzoni P, Fischer A, Villa A, Sobacchi C. Pangrazio A, et al. Among authors: schlack c. J Bone Miner Res. 2012 Feb;27(2):342-51. doi: 10.1002/jbmr.559. J Bone Miner Res. 2012. PMID: 22271396 Free PMC article.
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U. Dimopoulou A, et al. Among authors: schlack c. Mol Genet Metab. 2013 Nov;110(3):352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24. Mol Genet Metab. 2013. PMID: 24035636
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D. Kolanczyk M, et al. Among authors: schlack c. Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11. Eur J Hum Genet. 2015. PMID: 24916641 Free PMC article.
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D. Kolanczyk M, et al. Among authors: schlack c. Eur J Hum Genet. 2015 May;23(5):720. doi: 10.1038/ejhg.2014.278. Eur J Hum Genet. 2015. PMID: 25880334 Free PMC article. No abstract available.
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