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Clinical Dysmorphology|January 1, 1994
Otospondylomegaepiphyseal dysplasia: report of three sibs and review of the literatureL I al Gazali, W LytleClinical Dysmorphology|November 6, 2025
A rare case of mosaic monosomy 21 in a Moroccan patient: clinical findings and insights from a systematic reviewAmal Ouskri, Abdelhamid Bouramtane, Rania Bouchikhi, et al.Clinical Dysmorphology|November 6, 2025
USP18 gene mutation associated with recurrent encephalopathy, intracranial calcification, and microcephaly: case report, long-term follow-up, and literature reviewVykuntaraju K Gowda, Varunvenkat M Srinivasan, Archana Varghese, et al.Clinical Dysmorphology|May 31, 2012
Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literatureSophia M Bous, Benjamin D Solomon, Luitgard Graul-Neumann, et al.Clinical Dysmorphology|October 12, 2014
R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndromeEgle Preiksaitiene, Natalija Krasovskaja, Algirdas Utkus, et al.Clinical Dysmorphology|July 25, 2017
Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspringMaría G Domínguez, Horacio Rivera, Adriana Aguilar-Lemarroy, et al.Clinical Dysmorphology|May 28, 2016
Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasiaCori Feist, Paul Holden, Jamie FitzgeraldClinical Dysmorphology|December 15, 2017
Clinical and molecular characterization of the first familial report of 1p32 microdeletionSchaida Schirwani, Kath Smith, Meena BalasubramanianClinical Dysmorphology|September 6, 2017
Sinus pericranii in achondroplasia: a case report and review of the literatureAbbey A Scott, Katelyn D Hodge, Wilfredo Torres-Martinez, et al.Clinical Dysmorphology|October 21, 2020
A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literatureAlessandra Pelle, Laura Pezzoli, Erika Apuril, et al.Pageof 117