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Clinical Dysmorphology|January 1, 1997
Spondyloepimetaphyseal dysplasia and abnormal dentition in siblings: a new autosomal recessive syndromeV Rao, R E Morton, I D Young
Clinical Dysmorphology|January 1, 1997
Cranio-oculo-fronto-nasal malformation: a new MCA condition?V L Lopes, N L Campos, A T Maciel-Guerra
Clinical Dysmorphology|January 1, 1997
Unusual type of brachydactyly associated with intraventricular septal defect and deafness: a new condition?G Camera, M Costa
Clinical Dysmorphology|January 1, 1997
Identical twins with the classical form of Schwartz-Jampel syndromeD Pinto-Escalante, J M Ceballos-Quintal, J Canto-Herrera
Clinical Dysmorphology|January 1, 1997
Gerodermia osteodysplastica in a Bedouin sibship: further delineation of the syndromeN A al-Torki, S A al-Awadi, L Cindro-Heberie, et al.
Clinical Dysmorphology|January 1, 1997
Tetraamelia associated with a syrinx: fortuitous association or clue?A Megarbane, J Tamraz, S Haddad
Clinical Dysmorphology|June 24, 2010
Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndromeJill K Northup, Dena Matalon, Judy C Hawkins, et al.
Clinical Dysmorphology|March 11, 2011
Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocationBeena Koshy, Kausik Mandal, Vivi M Srivastava, et al.
Clinical Dysmorphology|August 28, 2025
Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressivaRasha M Elhossini, Hala T El-Bassyouni, Engy A Ashaat, et al.
Clinical Dysmorphology|October 22, 2019
Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosaAtta Ur Rehman, Virginie G Peter, Mathieu Quinodoz, et al.
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