Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman
Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene
A population-based study of craniosynostosis in metropolitan Atlanta, 1989–2003
Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata
Expanded clinical phenotype of women with the FMR1 premutation
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family
Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV
A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease
Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome
Association of homozygous LMNA mutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy
Further clinical description of duplication of Williams–Beuren region presenting with congenital glaucoma and brachycephaly
Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?
Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients
An undiagnosed cytogenetic abnormality results in the misidentification of a Duchenne muscular dystrophy carrier
Unique disease heritage of the Dutch-German Mennonite population
Clinical genetics and the Hutterite population: A review of Mendelian disorders
A novel splice site mutation in EYA4 causes DFNA10 hearing loss (Am J Med Genet 143(14): 1599–1604)