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Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|December 4, 2018
Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic ApproachesBrendan Backhouse, Chloe Hanna, Gorjana Robevska, et al.
Neurology|December 21, 2014
DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorderNicole I Wolf, Camilo Toro, Ilya Kister, et al.
American Journal of Medical Genetics. Part A|April 27, 2018
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathyAmy Pizzino, Matthew Whitehead, Parisa Sabet Rasekh, et al.
Nucleic Acids Research|November 16, 2010
Expression of distinct RNAs from 3' untranslated regionsTim R Mercer, Dagmar Wilhelm, Marcel E Dinger, et al.
Annals of Neurology|December 9, 2015
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathyGuy Helman, Ljubica Caldovic, Matthew T Whitehead, et al.
Genes & Development|August 9, 2015
mafba is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafishKatarzyna Koltowska, Scott Paterson, Neil I Bower, et al.
Frontiers in Genetics|March 15, 2024
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literatureEmma M J Passchier, Quinty Bisseling, Guy Helman, et al.
Brain : a Journal of Neurology|October 4, 2017
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophyImen Dorboz, Chiara Aiello, Cas Simons, et al.
European Journal of Human Genetics : EJHG|March 27, 2026
Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndromeLucas A Mitchell, Joshua Schmidt, Emmanuelle Souzeau, et al.
Medrxiv : the Preprint Server for Health Sciences|June 12, 2025
Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating PITX2 from a conserved enhancer locusLucas A Mitchell, Joshua Schmidt, Emmanuelle Souzeau, et al.
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