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Human Molecular Genetics|August 21, 2009
ALX4 dysfunction disrupts craniofacial and epidermal developmentHulya Kayserili, Elif Uz, Carien Niessen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2016
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis typeTim Van Damme, Alain Colige, Delfien Syx, et al.
Orphanet Journal of Rare Diseases|October 1, 2015
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndromeTahir Atik, Asuman Koparir, Guney Bademci, et al.
Molecular Syndromology|November 23, 2020
Clinical and Molecular Characterization of Fanconi Anemia Patients in TurkeyGüven Toksoy, Dilek Uludağ Alkaya, Gülendam Bagirova, et al.
European Journal of Human Genetics : EJHG|March 3, 2025
BCL11B-related disease: a single phenotypic entity?J Heather Vedovato-Dos-Santos, Rebecca S Tooze, Sivagamy Sithambaram, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasiaMarleen Simon, Ana Belinda Campos-Xavier, Lauréane Mittaz-Crettol, et al.
Human Mutation|October 31, 2009
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levelsCeline Huber, Mélanie Fradin, Thomas Edouard, 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.
American Journal of Human Genetics|October 25, 2011
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acidKathrin Laue, Hans-Martin Pogoda, Philip B Daniel, et al.
Nature Genetics|January 11, 2011
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunityEkkehart Lausch, Andreas Janecke, Matthias Bros, et al.
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