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Clinical Dysmorphology|April 5, 2019
Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndromeSébastien Mbuyi-Musanzayi, Eric I Kasamba, Nicole Revencu, et al.
Clinical Dysmorphology|August 5, 1998
Carpenter syndrome: report of two siblingsI Işlek, S Küçüködük, L Incesu, et al.
Clinical Dysmorphology|August 5, 1998
Mental retardation, iris coloboma, optic atrophy and distinctive facial appearance in two sibsL I al-Gazali
Clinical Dysmorphology|August 5, 1998
Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome?M J Parker, R C Groggins, P G Rees, et al.
Clinical Dysmorphology|March 23, 2010
Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literatureIrina Stefanova, Jutta Jenderny, Elke Kaminsky, et al.
Clinical Dysmorphology|March 24, 2010
Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndromeElke Verstraeten, Sofie Symoens, Marjolijn Renard, et al.
Clinical Dysmorphology|February 26, 2015
Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndromeGeorge A Tanteles, Sofia Michaelidou, Eleni Loukianou, et al.
Clinical Dysmorphology|December 10, 2009
'Crommelin-type' symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3)Louise Harewood, Jean W Keeling, Judith A Fantes, et al.
Clinical Dysmorphology|August 30, 2021
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literatureKameryn M Butler, Vahid Bahrambeigi, Allie Merrihew, et al.
Clinical Dysmorphology|March 6, 2023
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patientsRebecca L Poole, Emilia K Bijlsma, Gunnar Houge, et al.
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