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American Journal of Medical Genetics. Part A|August 20, 2015
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retinaNuria Garcia Segarra, Diana Ballhausen, Heather Crawford, et al.Human Genetics|January 12, 2011
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasiaSu Jin Kim, Tadeusz Bieganski, Young Bae Sohn, et al.JCI Insight|February 8, 2019
Hypomorphic mutations of TRIP11 cause odontochondrodysplasiaAnika Wehrle, Tomasz M Witkos, Sheila Unger, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD geneVirginie G Peter, Mathieu Quinodoz, Jorge Pinto-Basto, et al.American Journal of Human Genetics|January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndromeJohannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.American Journal of Human Genetics|November 26, 2019
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary HypoplasiaAriana Kariminejad, Emmanuelle Szenker-Ravi, Caroline Lekszas, et al.Clinical Dysmorphology|December 4, 2018
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patientsSheela Nampoothiri, Nursel H Elcioglu, Suleyman S Koca, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 2, 2015
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive OsteopetrosisEleonora Palagano, Harry C Blair, Alessandra Pangrazio, et al.Nature Genetics|February 26, 2008
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformationsSheila Unger, Detlef Böhm, Frank J Kaiser, et al.American Journal of Medical Genetics. Part A|March 27, 2015
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndromeEsra Dikoglu, Ali Alfaiz, Maria Gorna, et al.Pageof 24