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UnknownAn 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.
Not available
S-EPMC4974439 | biostudies-literature
UnknownA missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability.
Not available
S-EPMC7042088 | biostudies-literature
UnknownA retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.
Not available
S-EPMC6871525 | biostudies-literature
UnknownCLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Not available
S-EPMC4320260 | biostudies-literature
UnknownNatural history of KBG syndrome in a large European cohort.
Not available
S-EPMC9759332 | biostudies-literature
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