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Clinical Dysmorphology|January 15, 2019
Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a familyIbrahim Tekedereli, Emine Demiral, Ismail K Gokce, et al.
Clinical Dysmorphology|October 10, 2020
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephalyAngelika J Dawson, Karine Hovanes, Jing Liu, et al.
Clinical Dysmorphology|October 3, 2019
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variantsZena Lam, Shadi Albaba, Ddd Study, et al.
Clinical Dysmorphology|February 22, 2019
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defectKinga Hadzsiev, Zsuzsanna Gyorsok, Agnes Till, et al.
Clinical Dysmorphology|April 5, 2008
Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndromeCaroline Laforest, Igal Leibovitch, Dinesh Selva, et al.
Clinical Dysmorphology|April 5, 2008
Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 geneMurat Derbent, Deniz Anuk, Aylin Tarcan, et al.
Clinical Dysmorphology|February 2, 2017
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndromeGeorge A Tanteles, Nayia Nicolaou, Andreas Syrimis, et al.
Clinical Dysmorphology|December 1, 2007
Expanding the phenotype of 22q11 deletion syndrome: the MURCS associationVera Uliana, Nicola Giordano, Rossella Caselli, et al.
Clinical Dysmorphology|December 1, 2007
First case reported of Turner syndrome and trisomy 14 chromosomal mosaicism in a patientLuis E Becerra-Solano, Lisette Arnaud-Lopez, Manuel Diaz-Rodriguez, et al.
Clinical Dysmorphology|December 1, 2007
Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russell syndromeRomina Combi, Elena Sala, Nicoletta Villa, et al.
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